Disease (ORPHA:33364):
Trichothiodystrophy

Associated phenotypes (HPO):
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002562
hpo_term: Low-set nipples
chpo_term: 乳头低位
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0003079
hpo_term: Defective DNA repair after ultraviolet radiation damage
chpo_term: 紫外线辐射后DNA损伤修复缺陷
id: HP:0003139
hpo_term: Panhypogammaglobulinemia
chpo_term: 全丙种球蛋白减少血症
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006538
hpo_term: Recurrent bronchopulmonary infections
chpo_term: 反复支气管肺感染
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0007034
hpo_term: Generalized hyperreflexia
chpo_term: 广泛性反射亢进
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍
id: HP:0007381
hpo_term: Congenital exfoliative erythroderma
chpo_term: 先天性剥脱性红皮病
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0007587
hpo_term: Numerous pigmented freckles
chpo_term: 多发性雀斑
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010551
hpo_term: Paraplegia/paraparesis
chpo_term: 截瘫
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0025548
hpo_term: Increased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量增多
id: HP:0045055
hpo_term: Tiger tail banding
chpo_term: 老虎尾巴带
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0410219
hpo_term: Hypoplasia of mandible relative to maxilla
chpo_term: 相对于上颌骨下颌骨发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000320
hpo_term: Bird-like facies
chpo_term: 鸟样面相
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001197
hpo_term: Abnormality of prenatal development or birth
chpo_term: 胎儿产前发育或出生异常
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0001809
hpo_term: Split nail
chpo_term: 甲纵裂