Disease (OMIM:613385):
Autoimmune disease, multisystem, with facial dysmorphism
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM

Associated phenotypes (HPO):
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0005659
hpo_term: Thoracic kyphoscoliosis
chpo_term: 胸椎后侧凸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0032342
hpo_term: Reduced forced expiratory volume in one second
chpo_term: 每秒用力呼气量减少
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出