Disease (ORPHA:1662):
Lethal restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal tight skin-contracture syndrome
Restrictive dermopathy

Associated phenotypes (HPO):
id: HP:0030053
hpo_term: Stiff skin
chpo_term: 硬皮
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001196
hpo_term: Short umbilical cord
chpo_term: 脐带过短
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002597
hpo_term: Abnormality of the vasculature
chpo_term: 脉管系统异常
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0004492
hpo_term: Widely patent fontanelles and sutures
chpo_term: 前囟及颅缝宽大
id: HP:0005253
hpo_term: Increased anterioposterior diameter of thorax
chpo_term: 胸廓前后径增大
id: HP:0005267
hpo_term: Premature delivery because of cervical insufficiency or membrane fragility
chpo_term: 宫颈机能不全或胎膜脆性原因导致的早产
id: HP:0005595
hpo_term: Generalized hyperkeratosis
chpo_term: 泛发性角化过度
id: HP:0006266
hpo_term: Small placenta
chpo_term: 小胎盘
id: HP:0006645
hpo_term: Thin clavicles
chpo_term: 锁骨细小
id: HP:0006710
hpo_term: Aplasia/Hypoplasia of the clavicles
chpo_term: 锁骨发育不良/发育不全
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0007592
hpo_term: Aplasia/Hypoplastia of the eccrine sweat glands
chpo_term: 外分泌汗腺发育缺陷/不全
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009924
hpo_term: Aplasia/Hypoplasia involving the nose
chpo_term: 鼻发育不全／未发育
id: HP:0010219
hpo_term: Structural foot deformity
chpo_term: 足结构性畸形
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0025354
hpo_term: Abnormal cellular phenotype
chpo_term: 细胞表型异常
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0005659
hpo_term: Thoracic kyphoscoliosis
chpo_term: 胸椎后侧凸
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0008244
hpo_term: Congenital adrenal hypoplasia
chpo_term: 先天性肾上腺发育不全
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲