Disease (ORPHA:79345):
Brachytelephalangic chondrodysplasia punctata

Associated phenotypes (HPO):
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0003320
hpo_term: C1-C2 subluxation
chpo_term: C1-C2半脱位
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0004695
hpo_term: Calcaneal epiphyseal stippling
chpo_term: 跟骨骨骺点状钙化
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0008417
hpo_term: Vertebral hypoplasia
chpo_term: 椎体发育不全
id: HP:0008434
hpo_term: Hypoplastic cervical vertebrae
chpo_term: 颈椎发育不良
id: HP:0008445
hpo_term: Cervical spinal canal stenosis
chpo_term: 颈椎椎管狭窄
id: HP:0008469
hpo_term: Cervical vertebral dysplasia
chpo_term: 颈椎发育不良
id: HP:0008754
hpo_term: Laryngeal calcification
chpo_term: 喉钙化
id: HP:0009107
hpo_term: Abnormal ossification involving the femoral head and neck
chpo_term: 股骨颈和股骨头骨化异常
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0010171
hpo_term: Epiphyseal stippling of toe phalanges
chpo_term: 趾骨骨骺点状钙化
id: HP:0010255
hpo_term: Stippling of the epiphyses of the distal phalanges of the hand
chpo_term: 末节指骨骨骺点状钙化
id: HP:0010646
hpo_term: Cervical spine instability
chpo_term: 颈椎不稳
id: HP:0025426
hpo_term: Abnormal bronchus morphology
chpo_term: 支气管形态异常
id: HP:3000052
hpo_term: Abnormal hyoid bone morphology
chpo_term: 舌骨形态异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0002947
hpo_term: Cervical kyphosis
chpo_term: 颈椎后凸畸形
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001857
hpo_term: Short distal phalanx of toe
chpo_term: 末节跖骨短小
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0008420
hpo_term: Punctate vertebral calcifications
chpo_term: 椎体点状钙化
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0010666
hpo_term: Hypoplasia of the anterior nasal spine
chpo_term: 前鼻棘发育不良
id: HP:0000919
hpo_term: Abnormality of the costochondral junction
chpo_term: 肋软骨交界处异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002341
hpo_term: Cervical cord compression
chpo_term: 颈脊髓压迫症
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002787
hpo_term: Tracheal calcification
chpo_term: 气管钙化
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速