Disease (OMIM:620005):
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome

Associated phenotypes (HPO):
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
id: HP:0006577
hpo_term: Macronodular cirrhosis
chpo_term: 大结节性肝硬化
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0005365
hpo_term: Severe B lymphocytopenia
chpo_term: 重型B淋巴细胞减少症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0033677
hpo_term: Acute respiratory distress syndrome
chpo_term: 急性呼吸窘迫综合征
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾