Disease (ORPHA:221120):
ASSA
Aminopterin syndrome-like sine aminopterin
Pseudoaminopterin syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0009911
hpo_term: Abnormal temporal bone morphology
chpo_term: 颞骨形态异常
id: HP:0010657
hpo_term: Patchy reduction of bone mineral density
chpo_term: 骨密度斑片状降低
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000884
hpo_term: Prominent sternum
chpo_term: 胸骨突出
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0004684
hpo_term: Talipes valgus
chpo_term: 马蹄外翻足
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008598
hpo_term: Mild conductive hearing impairment
chpo_term: 轻度传导性听力损失
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009739
hpo_term: Hypoplasia of the antihelix
chpo_term: 对耳轮发育不全
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0010767
hpo_term: Sacrococcygeal pilonidal abnormality
chpo_term: 骶尾部藏毛异常
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0025193
hpo_term: Posterolateral diaphragmatic hernia
chpo_term: 后外侧膈疝
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0040025
hpo_term: Clinodactyly of the 4th finger
chpo_term: 第四指弯曲
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指