Disease (ORPHA:397715):
JBTS with JATD
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with JATD

Associated phenotypes (HPO):
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0011933
hpo_term: Elongated superior cerebellar peduncle
chpo_term: 小脑上脚延长
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002195
hpo_term: Dysgenesis of the cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003170
hpo_term: Abnormal acetabulum morphology
chpo_term: 髋臼形态异常
id: HP:0003411
hpo_term: Proximal femoral metaphyseal irregularity
chpo_term: 股骨近端干骺端不规则
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004629
hpo_term: Small cervical vertebral bodies
chpo_term: 颈椎椎体小
id: HP:0004991
hpo_term: Rhizomelic arm shortening
chpo_term: 肢根型手臂缩短
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006668
hpo_term: Twelfth rib hypoplasia
chpo_term: 第十二肋发育不全
id: HP:0006711
hpo_term: Aplasia/Hypoplasia involving bones of the thorax
chpo_term: 胸廓骨骼发育不良/发育不全
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0007082
hpo_term: Dilated third ventricle
chpo_term: 第三脑室扩张
id: HP:0008445
hpo_term: Cervical spinal canal stenosis
chpo_term: 颈椎椎管狭窄
id: HP:0008797
hpo_term: Early ossification of capital femoral epiphyses
chpo_term: 早发性股骨头骨骺骨化
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0010013
hpo_term: Abnormal 5th metacarpal morphology
chpo_term: 第五掌骨形态异常
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0011927
hpo_term: Short digit
chpo_term: 短指（趾）畸形
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012106
hpo_term: Rhizomelic leg shortening
chpo_term: 肢根型腿缩短
id: HP:0012795
hpo_term: Abnormal optic disc morphology
chpo_term: 视盘形态异常
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0031528
hpo_term: Subretinal deposits
chpo_term: 视网膜下沉积物
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100954
hpo_term: Open operculum
chpo_term: 岛盖张开