Disease (OMIM:614437):
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Cutis laxa, autosomal recessive, type IB

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0004955
hpo_term: Generalized arterial tortuosity
chpo_term: 周身动脉迂曲
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0010759
hpo_term: Prominence of the premaxilla
chpo_term: 前颌骨突出
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0004927
hpo_term: Pulmonary artery dilatation
chpo_term: 肺动脉扩张
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0005116
hpo_term: Arterial tortuosity
chpo_term: 动脉迂曲
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0004937
hpo_term: Pulmonary artery aneurysm
chpo_term: 肺动脉瘤
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002576
hpo_term: Intussusception
chpo_term: 肠套叠
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0040044
hpo_term: Hypoplasia of the diaphragm
chpo_term: 横膈膜发育不全
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0004948
hpo_term: Vascular tortuosity
chpo_term: 血管迂曲
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌