Disease (OMIM:219000):
FRASER SYNDROME 1
Fraser syndrome

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0008609
hpo_term: Morphological abnormality of the middle ear
chpo_term: 中耳形态异常
id: HP:0003191
hpo_term: Cleft ala nasi
chpo_term: 鼻翼裂
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0000636
hpo_term: Upper eyelid coloboma
chpo_term: 上眼睑缺损
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0007993
hpo_term: Malformed lacrimal duct
chpo_term: 泪道畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001551
hpo_term: Abnormal umbilicus morphology
chpo_term: 脐形态结构异常
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002244
hpo_term: Abnormality of the small intestine
chpo_term: 小肠异常
id: HP:0005950
hpo_term: Laryngeal web
chpo_term: 喉蹼
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0005352
hpo_term: Severe T-cell immunodeficiency
chpo_term: 重度T细胞免疫缺陷
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:6000613
id: HP:0008750
hpo_term: Laryngeal atresia
chpo_term: 喉闭锁
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000777
hpo_term: Abnormality of the thymus
chpo_term: 胸腺异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0009767
hpo_term: Aplasia/Hypoplasia of the phalanges of the hand
chpo_term: 指骨发育不良/发育不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0008559
hpo_term: Hypoplastic superior helix
chpo_term: 耳轮上部发育不全
id: HP:0006714
hpo_term: Aplasia/Hypoplasia of the sternum
chpo_term: 胸骨发育不良/发育不全
id: HP:0005325
hpo_term: Extension of hair growth on temples to lateral eyebrow
chpo_term: 颞部头发连到眉梢
id: HP:0007925
hpo_term: Lacrimal duct aplasia
chpo_term: 泪管发育缺陷
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0004112
hpo_term: Midline nasal groove
chpo_term: 鼻中线浅沟
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0003183
hpo_term: Wide pubic symphysis
chpo_term: 耻骨联合增宽
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁