Disease (OMIM:607944):
Spondyloenchondrodysplasia with immune dysregulation
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0007526
hpo_term: Hypopigmented skin patches on arms
chpo_term: 手臂色素减退斑
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0100866
hpo_term: Short iliac bones
chpo_term: 短髂骨
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002958
hpo_term: Immune dysregulation
chpo_term: 免疫失调
id: HP:0004979
hpo_term: Metaphyseal sclerosis
chpo_term: 干骺端硬化
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002694
hpo_term: Sclerosis of skull base
chpo_term: 颅底硬化
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0030320
hpo_term: Increased intervertebral space
chpo_term: 椎间隙增宽
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0005681
hpo_term: Juvenile rheumatoid arthritis
chpo_term: 幼年类风湿关节炎
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症