Disease (OMIM:600373):
CODAS syndrome
CODAS SYNDROME

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0003112
hpo_term: Abnormal circulating amino acid concentration
chpo_term: 血清氨基酸水平异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:6000870
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0009901
hpo_term: Crumpled ear
chpo_term: 皱耳
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002682
hpo_term: Broad skull
chpo_term: 颅骨增宽
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0008278
hpo_term: Cerebellar cortical atrophy
chpo_term: 小脑皮质萎缩
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0010577
hpo_term: Absent epiphyses
chpo_term: 骨骺缺如
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0004626
hpo_term: Lumbar scoliosis
chpo_term: 腰椎侧凸
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