Disease (ORPHA:2052):
Cryptophthalmos-syndactyly syndrome
Fraser syndrome

Associated phenotypes (HPO):
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0008749
hpo_term: Laryngeal hypoplasia
chpo_term: 喉发育不全
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0010458
hpo_term: Female pseudohermaphroditism
chpo_term: 女性假两性畸形
id: HP:0012732
hpo_term: Anorectal anomaly
chpo_term: 肛肠异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000068
hpo_term: Urethral atresia
chpo_term: 尿道闭锁
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007925
hpo_term: Lacrimal duct aplasia
chpo_term: 泪管发育缺陷
id: HP:0007993
hpo_term: Malformed lacrimal duct
chpo_term: 泪道畸形
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000370
hpo_term: Abnormality of the middle ear
chpo_term: 中耳异常
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0003191
hpo_term: Cleft ala nasi
chpo_term: 鼻翼裂
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004112
hpo_term: Midline nasal groove
chpo_term: 鼻中线浅沟
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0003183
hpo_term: Wide pubic symphysis
chpo_term: 耻骨联合增宽
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良