Disease (ORPHA:221008):
RTS1
Poikiloderma of Rothmund-Thomson type 1
Rothmund-Thomson syndrome type 1

Associated phenotypes (HPO):
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0005775
hpo_term: Multiple skeletal anomalies
chpo_term: 多发性骨骼异常
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0012719
hpo_term: Functional abnormality of the gastrointestinal tract
chpo_term: 胃肠道功能异常
id: HP:0020110
hpo_term: Bone fracture
chpo_term: 骨折
id: HP:0031367
hpo_term: Metaphyseal striations
chpo_term: 干骺端条纹
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0100671
hpo_term: Abnormal trabecular bone morphology
chpo_term: 骨小梁形态异常
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0003761
hpo_term: Calcinosis
chpo_term: 钙质沉着
id: HP:0003995
hpo_term: Abnormality of the radial head
chpo_term: 桡骨小头异常
id: HP:0004039
hpo_term: Abnormal ulnar metaphysis morphology
chpo_term: 尺骨干骺端形态异常
id: HP:0004979
hpo_term: Metaphyseal sclerosis
chpo_term: 干骺端硬化
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0009700
hpo_term: Finger symphalangism
chpo_term: 指骨骨性融合
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病