Disease (ORPHA:763):
Pycnodysostosis
Pyknodysostosis

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004474
hpo_term: Persistent open anterior fontanelle
chpo_term: 前囟持续不闭合
id: HP:0005446
hpo_term: Obtuse angle of mandible
chpo_term: 下颌钝角
id: HP:0005906
hpo_term: Delayed pneumatization of the mastoid process
chpo_term: 乳突气腔形成延迟
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0005789
hpo_term: Generalized osteosclerosis
chpo_term: 周身性骨硬化
id: HP:0008598
hpo_term: Mild conductive hearing impairment
chpo_term: 轻度传导性听力损失
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000680
hpo_term: Delayed eruption of primary teeth
chpo_term: 乳牙萌出延迟
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003302
hpo_term: Spondylolisthesis
chpo_term: 脊椎滑脱症
id: HP:0003304
hpo_term: Spondylolysis
chpo_term: 峡部裂
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0010884
hpo_term: Acromelia
chpo_term: 肢端短缩
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍