TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79452):
Nonne-Milroy lymphedema
Milroy disease
Hereditary lymphedema type I

Associated phenotypes (HPO):
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001785
hpo_term: Ankle swelling
chpo_term: 踝关节肿胀
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0002624
hpo_term: Abnormal venous morphology
chpo_term: 静脉形态异常
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200058
hpo_term: Angiosarcoma
chpo_term: 血管肉瘤
id: HP:0001055
hpo_term: Erysipelas
chpo_term: 丹毒
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
Disease (ORPHA:335):
Congenital fibrinogen deficiency

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009723
hpo_term: Abnormality of the subungual region
chpo_term: 甲下组织异常
id: HP:0011029
hpo_term: Internal hemorrhage
chpo_term: 内出血
id: HP:0011884
hpo_term: Abnormal umbilical stump bleeding
chpo_term: 异常脐带根部出血
id: HP:0012223
hpo_term: Splenic rupture
chpo_term: 脾破裂
id: HP:0012886
hpo_term: Hemorrhagic ovarian cyst
chpo_term: 出血性卵巢囊肿
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
Disease (ORPHA:79455):
Cutaneous local mastocytoma
Solitary mastocytoma
Multiple mastocytoma
Cutaneous mastocytoma

Associated phenotypes (HPO):
id: HP:0025081
hpo_term: Darier's sign
chpo_term: Darier征
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0025473
hpo_term: Hyperpigmented papule
chpo_term: 色素沉着性丘疹
id: HP:0025533
hpo_term: Peau d'orange
chpo_term: 桔皮化
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0007583
hpo_term: Telangiectasia macularis eruptiva perstans
chpo_term: 持久斑疹性毛细血管扩张
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
Disease (ORPHA:79456):
DCM
Diffuse cutaneous mastocytosis
Diffuse cutaneous maculopapulous mastocytosis

Associated phenotypes (HPO):
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0025081
hpo_term: Darier's sign
chpo_term: Darier征
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0025533
hpo_term: Peau d'orange
chpo_term: 桔皮化
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0009123
hpo_term: Mixed hypo- and hyperpigmentation of the skin
chpo_term: 皮肤色素减退和色素沉着共存
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
Disease (ORPHA:337):
Myositis ossificans progressiva
Fibrodysplasia ossificans progressiva
Stone man syndrome
FOP

Associated phenotypes (HPO):
id: HP:0011986
hpo_term: Ectopic ossification
chpo_term: 异位性骨化
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001844
hpo_term: Abnormality of the hallux
chpo_term: 拇趾异常
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0010054
hpo_term: Abnormality of the first metatarsal bone
chpo_term: 第一跖骨异常
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0011987
hpo_term: Ectopic ossification in muscle tissue
chpo_term: 肌肉组织异位性骨化
id: HP:0011989
hpo_term: Ectopic ossification in ligament tissue
chpo_term: 韧带组织异位性骨化
id: HP:0030431
hpo_term: Osteochondroma
chpo_term: 骨软骨瘤
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0003367
hpo_term: Abnormal femoral neck morphology
chpo_term: 股骨颈形态异常
id: HP:0010058
hpo_term: Aplasia/Hypoplasia of the phalanges of the hallux
chpo_term: 拇趾骨发育不良或发育不全
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0030038
hpo_term: Enchondroma
chpo_term: 内生软骨瘤
id: HP:0100240
hpo_term: Synostosis of joints
chpo_term: 关节骨性联接
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
Disease (ORPHA:79457):
Urticaria pigmentosa
Maculopapular cutaneous mastocytosis

Associated phenotypes (HPO):
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0025081
hpo_term: Darier's sign
chpo_term: Darier征
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0025507
hpo_term: Yellow papule
chpo_term: 黄色丘疹
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0020172
hpo_term: Adverse drug response
chpo_term: 药物不良反应
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
Disease (ORPHA:376):
Gordon syndrome
Camptodactyly-cleft palate-clubfoot syndrome
Distal arthrogryposis type IIA
Distal arthrogryposis type 3

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:375):
Goodpasture syndrome
Anti-GBM syndrome
Anti-glomerular basement membrane disease

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:228384):
Monosomy 5q14.3
5q14.3 microdeletion syndrome
Del(5)(q14.3)

Associated phenotypes (HPO):
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006913
hpo_term: Frontal cortical atrophy
chpo_term: 额叶皮质萎缩
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
Disease (ORPHA:377):
NBCCS
Nevoid basal cell carcinoma syndrome
Basal cell nevus syndrome
Gorlin syndrome
Gorlin-Goltz syndrome

Associated phenotypes (HPO):
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0010610
hpo_term: Palmar pits
chpo_term: 手掌点状隐窝
id: HP:0010612
hpo_term: Plantar pits
chpo_term: 跖部隐窝
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000892
hpo_term: Bifid ribs
chpo_term: 肋骨端分叉
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0000907
hpo_term: Anterior rib cupping
chpo_term: 杯状前肋
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0005462
hpo_term: Calcification of falx cerebri
chpo_term: 大脑镰钙化
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0010603
hpo_term: Odontogenic keratocysts of the jaw
chpo_term: 颌骨牙源性角化囊肿
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0005449
hpo_term: Bridged sella turcica
chpo_term: 桥形蝶鞍
id: HP:0010618
hpo_term: Ovarian fibroma
chpo_term: 卵巢纤维瘤
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0010617
hpo_term: Cardiac fibroma
chpo_term: 心脏纤维瘤
Disease (ORPHA:371):
Glycogenosis due to muscle phosphofructokinase deficiency
GSD type 7
Glycogen storage disease type 7
GSD type VII
Glycogen storage disease type VII
GSD due to muscle phosphofructokinase deficiency
Glycogenosis type 7
Glycogen storage disease due to muscle phosphofructokinase deficiency
Tarui disease
Glycogenosis type VII

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
Disease (ORPHA:685082):
Pediatric ARDS
PARDS
Pediatric acute respiratory distress syndrome

Associated phenotypes (HPO):
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0030863
hpo_term: Nasal flaring
chpo_term: 鼻翼煽动
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:329918):
Non-Ig-mediated membranoproliferative glomerulonephritis
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Non-immunoglobulin-mediated MPGN
C3 glomerulopathy
Non-Ig-mediated MPGN

Associated phenotypes (HPO):
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0012574
hpo_term: Mesangial hypercellularity
chpo_term: 肾小球系膜增生
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0025364
hpo_term: Glomerular extracapillary hypercellularity
chpo_term: 肾小球毛细血管外细胞增生
id: HP:0030888
hpo_term: C3 nephritic factor positivity
chpo_term: C3肾炎因子阳性
id: HP:0031047
hpo_term: Paraproteinemia
chpo_term: 副蛋白血症
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0011510
hpo_term: Drusen
chpo_term: 玻璃膜疣
id: HP:0025567
hpo_term: Central serous chorioretinopathy
chpo_term: 中心性浆液性脉络膜视网膜病变
id: HP:0030469
hpo_term: Abnormal dark-adapted electroretinogram
chpo_term: 暗适应视网膜电图异常
id: HP:0030506
hpo_term: Yellow/white lesions of the retina
chpo_term: 视网膜黄/白病变
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
Disease (ORPHA:369):
Glycogen storage disease type 6
Glycogen storage disease type VI
Glycogenosis due to liver glycogen phosphorylase deficiency
Glycogenosis type VI
GSD type VI
Glycogenosis type 6
Glycogen storage disease due to liver glycogen phosphorylase deficiency
GSD type 6
Hepatic phosphorylase deficiency
Hepatic glycogen phosphorylase deficiency
Liver glycogen phosphorylase deficiency
Hers disease
GSD due to liver glycogen phosphorylase deficiency

Associated phenotypes (HPO):
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004913
hpo_term: Intermittent lactic acidemia
chpo_term: 间歇性乳酸血症
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0011997
hpo_term: Postprandial hyperlactemia
chpo_term: 餐后高乳酸血症