Disease (OMIM:305620):
FRONTOMETAPHYSEAL DYSPLASIA 1
Frontometaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0008097
hpo_term: Partial fusion of tarsals
chpo_term: 跗骨部分融合
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006155
hpo_term: Long phalanx of finger
chpo_term: 长指骨
id: HP:0001648
hpo_term: Cor pulmonale
chpo_term: 肺源性心脏病
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001220
hpo_term: Interphalangeal joint contracture of finger
chpo_term: 指间关节挛缩
id: HP:0001220
hpo_term: Interphalangeal joint contracture of finger
chpo_term: 指间关节挛缩
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0004608
hpo_term: Anteriorly placed odontoid process
chpo_term: 齿状突前置
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0006665
hpo_term: Coat hanger sign of ribs
chpo_term: 衣架样肋骨
id: HP:0002700
hpo_term: Large foramen magnum
chpo_term: 大枕骨大孔
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0006207
hpo_term: Partial fusion of carpals
chpo_term: 腕骨部分融合
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0009768
hpo_term: Broad phalanges of the hand
chpo_term: 指骨变宽
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0006440
hpo_term: Increased density of long bone diaphyses
chpo_term: 长骨骨干骨密度增加
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0003779
hpo_term: Antegonial notching of mandible
chpo_term: 下颌骨前角切迹
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0002688
hpo_term: Absent frontal sinuses
chpo_term: 额窦缺如
id: HP:0002688
hpo_term: Absent frontal sinuses
chpo_term: 额窦缺如