TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618776):
Mitochondrial complex I deficiency, nuclear type 34
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34

Associated phenotypes (HPO):
id: HP:0032615
hpo_term: Abnormal diffusion weighted cerebral MRI morphology
chpo_term: 脑磁共振弥散加权成像异常形态
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
Disease (OMIM:619468):
Nephronophthisis-like nephropathy 2
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2

Associated phenotypes (HPO):
id: HP:0032417
hpo_term: Periglomerular fibrosis
chpo_term: 肾小球周围纤维化
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0032622
hpo_term: Tubular luminal dilatation
chpo_term: 肾小管腔扩张
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
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:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
Disease (OMIM:142623):
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
Hirschsprung disease, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0004362
hpo_term: Abnormality of enteric ganglion morphology
chpo_term: 肠神经节形态异常
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:221300):
Deafness, conductive, with malformed external ear
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR

Associated phenotypes (HPO):
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:605041):
BROOKE-SPIEGLER SYNDROME
Brooke-Spiegler syndrome

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:180210):
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
Retinopathy, pericentral pigmentary, dominant

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
Disease (OMIM:104110):
Alopecia, familial focal
ALOPECIA, FAMILIAL FOCAL

Associated phenotypes (HPO):
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:268700):
SACCHAROPINURIA
Saccharopinuria

Associated phenotypes (HPO):
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:6000283
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003297
hpo_term: Hyperlysinuria
chpo_term: 高赖氨酸尿症
id: HP:0002927
hpo_term: Histidinuria
chpo_term: 组氨酸尿症
id: HP:0032397
hpo_term: Citrullinuria
chpo_term: 瓜氨酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0034026
hpo_term: Elevated circulating sacchoropine concentration
chpo_term: 循环酵母氨酸水平升高
id: HP:0034028
hpo_term: Saccharopinuria
chpo_term: 酵母氨酸尿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618010):
Glycosylphosphatidylinositol biosynthesis defect 17
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0031703
hpo_term: Abnormal ear morphology
chpo_term: 耳形态异常
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
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:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0004379
hpo_term: Abnormality of alkaline phosphatase level
chpo_term: 碱性磷酸酶活性异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
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:0025510
hpo_term: Nevus spilus
chpo_term: 斑痣
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100025
hpo_term: Overfriendliness
chpo_term: 过度友善
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:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (OMIM:617323):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59
Intellectual developmental disorder, autosomal recessive 59

Associated phenotypes (HPO):
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:608203):
IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis

Associated phenotypes (HPO):
id: HP:0003203
hpo_term: Impaired oxidative burst
chpo_term: 四氮唑蓝（NBT）还原试验阴性
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0005400
hpo_term: Reduction of neutrophil motility
chpo_term: 中性粒细胞运动性能减低
id: HP:0012618
hpo_term: Urachal cyst
chpo_term: 脐尿管囊肿
id: HP:0032434
hpo_term: Delayed umbilical cord separation
chpo_term: 脐带延迟分离
id: HP:0032435
hpo_term: Neonatal omphalitis
chpo_term: 新生儿脐炎
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0040238
hpo_term: Impaired neutrophil chemotaxis
chpo_term: 中性粒细胞趋化功能受损
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:614602):
TRICHOHEPATOENTERIC SYNDROME 2
Trichohepatoenteric syndrome 2

Associated phenotypes (HPO):
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0030056
hpo_term: Uncombable hair
chpo_term: 蓬发
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:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0200123
hpo_term: Chronic hepatitis
chpo_term: 慢性肝炎
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:609135):
Aplastic anemia
APLASTIC ANEMIA

Associated phenotypes (HPO):
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
Disease (OMIM:619326):
BDV SYNDROME
Intellectual developmental disorder and hypogonadotropic hypogonadism

Associated phenotypes (HPO):
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0033078
hpo_term: Decreased circulating free T4 concentration
chpo_term: 循环游离T4水平降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0033082
hpo_term: Reduced TSH response to thyrotrophin-releasing hormone stimulation test
chpo_term: 促甲状腺激素释放激素刺激试验引起的TSH降低
Disease (OMIM:121390):
CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
Cornea guttata with anterior polar cataracts

Associated phenotypes (HPO):
id: HP:0001134
hpo_term: Anterior polar cataract
chpo_term: 前极白内障
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618986):
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA

Associated phenotypes (HPO):
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0410305
hpo_term: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
chpo_term: 对B型流感嗜血杆菌（Hib）疫苗特异性抗体应答降低
id: HP:0040238
hpo_term: Impaired neutrophil chemotaxis
chpo_term: 中性粒细胞趋化功能受损
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0012312
hpo_term: Monocytopenia
chpo_term: 单核细胞减少症
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0032170
hpo_term: Severe varicella zoster infection
chpo_term: 重度水痘带状疱疹感染
id: HP:0031382
hpo_term: Decreased lymphocyte proliferation in response to anti-CD3
chpo_term: 淋巴细胞抗CD3应答性增殖减弱
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:614164):
GLUTATHIONE PEROXIDASE DEFICIENCY
Glutathione peroxidase deficiency

Associated phenotypes (HPO):
id: HP:0020082
hpo_term: Heinz bodies
chpo_term: 海因小体
id: HP:0004863
hpo_term: Compensated hemolytic anemia
chpo_term: 代偿性溶血性贫血
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:614170):
BRITTLE CORNEA SYNDROME 2
Brittle cornea syndrome 2

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
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:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
id: HP:0100689
hpo_term: Decreased corneal thickness
chpo_term: 角膜厚度降低
id: HP:0001119
hpo_term: Keratoglobus
chpo_term: 球形角膜
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:600105):
Retinitis pigmentosa 12
RETINITIS PIGMENTOSA 12

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:193250):
VOLVULUS OF MIDGUT
Volvulus of midgut

Associated phenotypes (HPO):
id: HP:0005234
hpo_term: Neonatal intestinal obstruction
chpo_term: 新生儿肠梗阻
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
Disease (OMIM:137280):
GASTRITIS, FAMILIAL GIANT HYPERTROPHIC
Gastritis, familial giant hypertrophic

Associated phenotypes (HPO):
id: HP:0005246
hpo_term: Giant hypertrophic gastritis
chpo_term: 巨大肥厚性胃炎
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
Disease (OMIM:606574):
ALBINISM, OCULOCUTANEOUS, TYPE IV
Albinism, oculocutaneous, type IV

Associated phenotypes (HPO):
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
Disease (OMIM:609647):
DEAFNESS, AUTOSOMAL RECESSIVE 46
Deafness, neurosensory, autosomal recessive 46

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
id: HP:0008555
hpo_term: Absent vestibular function
chpo_term: 前庭功能缺失
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618992):
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15

Associated phenotypes (HPO):
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:616001):
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
Breasts and/or nipples, aplasia or hypoplasia of, 2

Associated phenotypes (HPO):
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0100853
hpo_term: Hypoplastic areola
chpo_term: 乳晕发育不良
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0032077
hpo_term: Male urethral meatus stenosis
chpo_term: 男性尿道口狭窄
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:212090):
CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA
Cardiac septal defects with coarctation of the aorta

Associated phenotypes (HPO):
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传