Disease (OMIM:268400):
Rothmund-Thomson syndrome
ROTHMUND-THOMSON SYNDROME, TYPE 2

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
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:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0010920
hpo_term: Zonular cataract
chpo_term: 带状白内障
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
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:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000395
hpo_term: Prominent antihelix
chpo_term: 对耳轮突出
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0006368
hpo_term: Forearm reduction defects
chpo_term: 前臂缩小缺陷
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌