Disease (ORPHA:1775):
DC
Zinsser-Engman-Cole syndrome
DKC
Dyskeratosis congenita

Associated phenotypes (HPO):
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0010450
hpo_term: Esophageal stenosis
chpo_term: 食管狭窄
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0012732
hpo_term: Anorectal anomaly
chpo_term: 肛肠异常
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡