Disease (OMIM:305000):
DYSKERATOSIS CONGENITA, X-LINKED
Dyskeratosis congenita, X-linked

Associated phenotypes (HPO):
id: HP:0030731
hpo_term: Carcinoma
chpo_term: 癌
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0005212
hpo_term: Anal mucosal leukoplakia
chpo_term: 肛门粘膜白斑
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001809
hpo_term: Split nail
chpo_term: 甲纵裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0012182
hpo_term: Oropharyngeal squamous cell carcinoma
chpo_term: 口咽部鳞状细胞癌
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002165
hpo_term: Pterygium of nails
chpo_term: 指甲翼状胬肉
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
id: HP:0007427
hpo_term: Reticulated skin pigmentation
chpo_term: 网状色素沉着
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷