Disease (OMIM:308050):
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Associated phenotypes (HPO):
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0005650
hpo_term: 2-5 finger cutaneous syndactyly
chpo_term: 第二-五指皮肤性并指
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
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:0002977
hpo_term: Aplasia/Hypoplasia involving the central nervous system
chpo_term: 中枢神经系统发育不全或不发育
id: HP:0009429
hpo_term: Aplasia of the distal phalanx of the 3rd finger
chpo_term: 第三指末节指骨发育不全
id: HP:0008417
hpo_term: Vertebral hypoplasia
chpo_term: 椎体发育不全
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0010760
hpo_term: Absent toe
chpo_term: 脚趾缺失
id: HP:0007431
hpo_term: Congenital ichthyosiform erythroderma
chpo_term: 先天性鱼鳞病样红皮病
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0009576
hpo_term: Absent middle phalanx of 2nd finger
chpo_term: 第二指中节指骨缺失
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008883
hpo_term: Mild intrauterine growth retardation
chpo_term: 轻度胎儿宫内发育迟缓
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0009565
hpo_term: Aplasia of the distal phalanx of the 2nd finger
chpo_term: 第二指末节指骨发育不全
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0010816
hpo_term: Epidermal nevus
chpo_term: 表皮痣
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003465
hpo_term: Elevated 8(9)-cholestenol
chpo_term: 8（9）-胆甾烯醇水平升高
id: HP:0003462
hpo_term: Elevated 8-dehydrocholesterol
chpo_term: 8-脱氢胆固醇水平升高
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0009438
hpo_term: Absent middle phalanx of 3rd finger
chpo_term: 第三指中节指骨缺失
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌