Disease (OMIM:201000):
Carpenter syndrome 1
CARPENTER SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0010093
hpo_term: Duplication of the proximal phalanx of the hallux
chpo_term: 拇趾近节趾骨重复
id: HP:0006397
hpo_term: Lateral displacement of patellae
chpo_term: 髌骨侧向脱位
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009608
hpo_term: Complete duplication of proximal phalanx of the thumb
chpo_term: 拇指近节指骨完全重复
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002700
hpo_term: Large foramen magnum
chpo_term: 大枕骨大孔
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0010194
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the toes
chpo_term: 中节趾骨发育不全或发育不良
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0010275
hpo_term: Pseudoepiphyses of the proximal phalanges of the hand
chpo_term: 近节指骨假骨骺
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖