Disease (ORPHA:79277):
CEP
Congenital erythropoietic porphyria
Günther disease

Associated phenotypes (HPO):
id: HP:0007537
hpo_term: Severe photosensitivity
chpo_term: 重度光敏性
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0040320
hpo_term: Red-brown urine
chpo_term: 红棕色尿液
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0030756
hpo_term: Erythrodontia
chpo_term: 红牙病
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
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:0002219
hpo_term: Facial hypertrichosis
chpo_term: 面部多毛症（先天性）
id: HP:0033009
hpo_term: Increased fecal coproporphyrin 1
chpo_term: 粪卟啉1增多
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0500115
hpo_term: Increased stool urobilinogen concentration
chpo_term: 粪便尿胆原浓度升高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0500046
hpo_term: Seborrhoeic blepharitis
chpo_term: 脂溢性睑缘炎
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0001560
hpo_term: Abnormality of the amniotic fluid
chpo_term: 羊水异常
id: HP:0040322
hpo_term: Purple urine
chpo_term: 紫色尿液
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0011457
hpo_term: Loss of eyelashes
chpo_term: 睫毛消退
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0012187
hpo_term: Increased erythrocyte protoporphyrin concentration
chpo_term: 红细胞原卟啉浓度增高
id: HP:0010472
hpo_term: Abnormal circulating porphyrin concentration
chpo_term: 血红素生物合成途径异常
id: HP:0012217
hpo_term: Increased urinary porphobilinogen
chpo_term: 尿液胆色素原增高
id: HP:0010473
hpo_term: Porphyrinuria
chpo_term: 卟啉尿症
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多