Disease (ORPHA:221139):
Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000306
hpo_term: Abnormality of the chin
chpo_term: 下巴异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003460
hpo_term: Decreased circulating total IgA
chpo_term: 循环总 IgA 降低
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007678
hpo_term: Lacrimal duct stenosis
chpo_term: 泪道狭窄
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0009650
hpo_term: Short distal phalanx of the thumb
chpo_term: 拇指远节指骨缩短
id: HP:0009844
hpo_term: Broad middle phalanx of finger
chpo_term: 中节指骨变宽
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0010282
hpo_term: Thin lower lip vermilion
chpo_term: 上红唇薄
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0010750
hpo_term: Dermatochalasis
chpo_term: 眼皮松弛
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0025540
hpo_term: Abnormal T cell subset distribution
chpo_term: T细胞亚群分布异常
id: HP:0031014
hpo_term: Arteria lusoria
chpo_term: 压迫性动脉
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0031382
hpo_term: Decreased lymphocyte proliferation in response to anti-CD3
chpo_term: 淋巴细胞抗CD3应答性增殖减弱
id: HP:0032132
hpo_term: Decreased circulating total IgG
chpo_term: 血液总IgG降低
id: HP:0032140
hpo_term: Decreased specific antibody response to vaccination
chpo_term: 疫苗应答特异性抗体降低
id: HP:0040022
hpo_term: Clinodactyly of the 2nd finger
chpo_term: 第二指弯曲
id: HP:0040024
hpo_term: Clinodactyly of the 3rd finger
chpo_term: 第三指弯曲
id: HP:0040025
hpo_term: Clinodactyly of the 4th finger
chpo_term: 第四指弯曲
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平