Disease (OMIM:619488):
DEGCAGS SYNDROME
DEGCAGS syndrome

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0012584
hpo_term: Bilateral renal hypoplasia
chpo_term: 双侧肾发育不良
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0012582
hpo_term: Bilateral renal dysplasia
chpo_term: 双侧肾发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0025408
hpo_term: Abnormal spleen morphology
chpo_term: 脾脏形态异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010943
hpo_term: Echogenic fetal bowel
chpo_term: 胎儿肠管回声增强
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0004810
hpo_term: Congenital hypoplastic anemia
chpo_term: 先天性发育不良性贫血
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0100957
hpo_term: Abnormal renal medulla morphology
chpo_term: 肾髓质形态异常
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0100507
hpo_term: Reduced blood folate concentration
chpo_term: 叶酸缺乏症
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0040119
hpo_term: Unilateral conductive hearing impairment
chpo_term: 单侧传导性听力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0005164
hpo_term: Dysplastic pulmonary valve
chpo_term: 肺动脉瓣发育不良
id: HP:0011035
hpo_term: Abnormal renal cortex morphology
chpo_term: 肾皮质形态异常
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0025429
hpo_term: Abnormal cry
chpo_term: 哭声异常
id: HP:0200053
hpo_term: Hemihypotrophy of lower limb
chpo_term: 下肢偏侧萎缩
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷