Disease (ORPHA:797):
Besnier-Boeck-Schaumann disease
Sarcoidosis
Boeck sarcoid

Associated phenotypes (HPO):
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0007734
hpo_term: Enlarged lacrimal glands
chpo_term: 泪腺增大
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011801
hpo_term: Enlargement of parotid gland
chpo_term: 腮腺肿大
id: HP:0011850
hpo_term: Parotitis
chpo_term: 腮腺炎
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0012243
hpo_term: Abnormal reproductive system morphology
chpo_term: 生殖系统形态异常
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
id: HP:0030146
hpo_term: Abnormal liver parenchyma morphology
chpo_term: 肝实质形态异常
id: HP:0030872
hpo_term: Abnormal cardiac ventricular function
chpo_term: 心室功能异常
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100828
hpo_term: Increased T cell count
chpo_term: T细胞数目增多
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000433
hpo_term: Abnormal nasal mucosa morphology
chpo_term: 鼻粘膜形态异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000502
hpo_term: Abnormal conjunctiva morphology
chpo_term: 结膜形态异常