Disease (OMIM:620186):
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0034199
hpo_term: Late first trimester onset
chpo_term: 孕早期晚期起病
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0005359
hpo_term: Aplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0010943
hpo_term: Echogenic fetal bowel
chpo_term: 胎儿肠管回声增强
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0007925
hpo_term: Lacrimal duct aplasia
chpo_term: 泪管发育缺陷
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009796
hpo_term: Branchial cyst
chpo_term: 鳃裂囊肿
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0004502
hpo_term: Bilateral choanal atresia
chpo_term: 双侧后鼻孔闭锁