Disease (OMIM:275210):
RESTRICTIVE DERMOPATHY, LETHAL
Restrictive dermopathy 1

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0005253
hpo_term: Increased anterioposterior diameter of thorax
chpo_term: 胸廓前后径增大
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011414
hpo_term: Hydropic placenta
chpo_term: 胎盘水肿
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0006391
hpo_term: Overtubulated long bones
chpo_term: 纤细长骨
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0007394
hpo_term: Prominent superficial blood vessels
chpo_term: 浅表血管突出
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006585
hpo_term: Congenital pseudoarthrosis of the clavicle
chpo_term: 先天性锁骨假关节
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:0001196
hpo_term: Short umbilical cord
chpo_term: 脐带过短
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0025712
hpo_term: Spontaneous chorioamniotic separation
chpo_term: 自发性绒毛膜羊膜分离
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001788
hpo_term: Premature rupture of membranes
chpo_term: 胎膜早破
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0031013
hpo_term: Ankylosis
chpo_term: 关节僵硬
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
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:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0006645
hpo_term: Thin clavicles
chpo_term: 锁骨细小
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻