Disease (ORPHA:239):
Dyggve-Melchior-Clausen disease

Associated phenotypes (HPO):
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0003183
hpo_term: Wide pubic symphysis
chpo_term: 耻骨联合增宽
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003274
hpo_term: Hypoplastic acetabulae
chpo_term: 髋臼发育低下
id: HP:0003368
hpo_term: Abnormal femoral head morphology
chpo_term: 股骨头形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0005106
hpo_term: Abnormality of the vertebral endplates
chpo_term: 椎骨终板异常
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0008786
hpo_term: Iliac crest serration
chpo_term: 髂嵴锯齿状缘
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0031233
hpo_term: Horizontal inferior border of scapula
chpo_term: 水平状肩胛骨下缘
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0004242
hpo_term: Broad carpal bones
chpo_term: 腕骨变宽
id: HP:0006633
hpo_term: Glenoid fossa hypoplasia
chpo_term: 关节窝发育不全
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良