TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:91355):
Sheehan syndrome

Associated phenotypes (HPO):
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007041
hpo_term: Chronic lymphocytic meningitis
chpo_term: 慢性淋巴细胞性脑膜炎
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0030907
hpo_term: Thunderclap headache
chpo_term: 霹雳性头痛
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008240
hpo_term: Secondary growth hormone deficiency
chpo_term: 继发性生长激素缺乏症
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003158
hpo_term: Hyposthenuria
chpo_term: 低渗尿
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:0012504
hpo_term: Abnormal size of pituitary gland
chpo_term: 脑垂体大小异常
Disease (ORPHA:1335):
Pentalogy of Cantrell
Thoraco-abdominal syndrome
Cantrell deformity
Cantrell syndrome

Associated phenotypes (HPO):
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001697
hpo_term: Abnormal pericardium morphology
chpo_term: 心包形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:1334):
CMC
Chronic mucocutaneous candidiasis

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000159
hpo_term: Abnormal lip morphology
chpo_term: 唇形态异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001821
hpo_term: Broad nail
chpo_term: 宽甲
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004306
hpo_term: Abnormal endocardium morphology
chpo_term: 心内膜形态异常
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:2668):
Nephropathy-hearing loss-hyperparathyroidism syndrome
Nephropathy-deafness-hyperparathyroidism syndrome
Edwards-Patton-Dilly syndrome

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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:2669):
Nephrosis-hearing loss-urinary tract-digital malformations syndrome
Braun-Bayer syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome

Associated phenotypes (HPO):
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0008071
hpo_term: Maternal hypertension
chpo_term: 妊娠期高血压疾病
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010097
hpo_term: Partial duplication of the distal phalanx of the hallux
chpo_term: 拇趾末节指骨部分重复
Disease (ORPHA:1333):
Familial pancreatic cancer
Familial pancreatic carcinoma

Associated phenotypes (HPO):
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0005249
hpo_term: Functional intestinal obstruction
chpo_term: 功能性肠梗阻
id: HP:0012334
hpo_term: Extrahepatic cholestasis
chpo_term: 肝外胆汁淤积
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0025318
hpo_term: Ovarian carcinoma
chpo_term: 卵巢癌
id: HP:0100592
hpo_term: Peritoneal abscess
chpo_term: 腹膜脓肿
Disease (ORPHA:95702):
X-linked congenital adrenal hypoplasia
X-linked adrenal hypoplasia congenita
X-linked AHC

Associated phenotypes (HPO):
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0046504
hpo_term: Decreased libido
chpo_term: 性欲减退
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
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:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
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:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0008186
hpo_term: Adrenocortical cytomegaly
chpo_term: 肾上腺皮质巨细胞症
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
Disease (ORPHA:1332):
Medullary thyroid carcinoma
MTC

Associated phenotypes (HPO):
id: HP:0002865
hpo_term: Medullary thyroid carcinoma
chpo_term: 甲状腺髓样癌
id: HP:0003528
hpo_term: Elevated calcitonin
chpo_term: 降钙素升高
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0030146
hpo_term: Abnormal liver parenchyma morphology
chpo_term: 肝实质形态异常
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
Disease (ORPHA:91348):
Functioning pituitary gonadotropic adenoma
Gonadotroph adenoma
Functioning gonadotropic adenoma

Associated phenotypes (HPO):
id: HP:0011759
hpo_term: Pituitary gonadotropic cell adenoma
chpo_term: 垂体促性腺激素腺瘤
id: HP:0000140
hpo_term: Abnormality of the menstrual cycle
chpo_term: 月经周期异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
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:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002050
hpo_term: Macroorchidism, postpubertal
chpo_term: 青春期后大睾丸
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008236
hpo_term: Isosexual precocious puberty
chpo_term: 同性性早熟
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0009888
hpo_term: Abnormality of secondary sexual hair
chpo_term: 第二性征毛发异常
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
Disease (ORPHA:1330):
Partial atrioventricular septal defect
Partial atrioventricular canal defect
Partial AVSD
PAVC

Associated phenotypes (HPO):
id: HP:0011577
hpo_term: Partial atrioventricular canal defect
chpo_term: 部分房室管缺损
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001692
hpo_term: Atrial arrhythmia
chpo_term: 房性心律不齐
id: HP:0001702
hpo_term: Abnormal tricuspid valve morphology
chpo_term: 三尖瓣形态异常
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0011565
hpo_term: Common atrium
chpo_term: 共同心房
id: HP:0030853
hpo_term: Heterotaxy
chpo_term: 内脏异位
id: HP:0031298
hpo_term: Coronary sinus enlargement
chpo_term: 冠状静脉窦扩张
Disease (ORPHA:95706):
Non-syndromic posterior hypospadias
Perineal, scrotal or penoscrotal hypospadias
Hypospadias, severe form

Associated phenotypes (HPO):
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0012435
hpo_term: Ventral shortening of foreskin
chpo_term: 腹侧包皮短缩
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0008226
hpo_term: Androgen insufficiency
chpo_term: 雄激素不足
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0008722
hpo_term: Urethral diverticulum
chpo_term: 尿道憩室
Disease (ORPHA:95707):
Idiopathic isolated micropenis

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
Disease (ORPHA:2662):
Nasodigitoacoustic syndrome
Keipert syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:2663):
Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
Nathalie syndrome
Deafness-cataract-skeletal anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:1338):
Ostravik-Lindemann-Solberg syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001233
hpo_term: 2-3 finger syndactyly
chpo_term: 第二-三指并指
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0100835
hpo_term: Benign neoplasm of the central nervous system
chpo_term: 中枢神经系统的良性肿瘤
Disease (ORPHA:1336):
Hyperkeratosis-hyperpigmentation syndrome

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:86822):
Lissencephaly type 3-metacarpal bone dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0003405
hpo_term: Diffuse axonal swelling
chpo_term: 弥漫性轴索肿胀
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0007190
hpo_term: Neuronal loss in the cerebral cortex
chpo_term: 大脑皮质中神经元损失
id: HP:0008178
hpo_term: Abnormal cartilage matrix
chpo_term: 软骨基质异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0012697
hpo_term: Small basal ganglia
chpo_term: 小基底神经节
Disease (ORPHA:293812):
Fixed drug eruption

Associated phenotypes (HPO):
id: HP:0011356
hpo_term: Regional abnormality of skin
chpo_term: 皮肤局部异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0020172
hpo_term: Adverse drug response
chpo_term: 药物不良反应
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0410323
hpo_term: Drug allergy
chpo_term: 药物性过敏
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0032565
hpo_term: Vaginal mucosal ulceration
chpo_term: 阴道粘膜溃疡
id: HP:0032156
hpo_term: Skin detachment
chpo_term: 皮肤脱落
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏