Disease (ORPHA:1830):
Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003368
hpo_term: Abnormal femoral head morphology
chpo_term: 股骨头形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0031409
hpo_term: Abnormal lymphocyte physiology
chpo_term: 淋巴细胞生理异常
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0005352
hpo_term: Severe T-cell immunodeficiency
chpo_term: 重度T细胞免疫缺陷
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0008784
hpo_term: Wide capital femoral epiphyses
chpo_term: 股骨头骨骺增宽
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0012593
hpo_term: Nephrotic range proteinuria
chpo_term: 肾性蛋白尿排泄增高
id: HP:0410373
hpo_term: Abnormal proportion of naive CD4 T cells
chpo_term: 初始CD4 T 细胞比例异常
id: HP:0410377
hpo_term: Decreased proportion of naive CD8 T cells
chpo_term: 初始CD8 T 细胞比例减低
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0004931
hpo_term: Arteriosclerosis of small cerebral arteries
chpo_term: 脑小动脉硬化
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006344
hpo_term: Abnormality of primary molar morphology
chpo_term: 乳臼齿形态异常
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0012579
hpo_term: Minimal change glomerulonephritis
chpo_term: 微小病变性肾小球肾炎
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤