Disease (ORPHA:666):
OI
Osteogenesis imperfecta
Brittle bone disease
Glass bone disease
Lobstein disease

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003084
hpo_term: Fractures of the long bones
chpo_term: 长骨骨折
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0004621
hpo_term: Enlarged vertebral pedicles
chpo_term: 椎弓膨大
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006640
hpo_term: Multiple rib fractures
chpo_term: 多发性肋骨骨折
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
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:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0004306
hpo_term: Abnormal endocardium morphology
chpo_term: 心内膜形态异常
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0030267
hpo_term: Calcification of the interosseus membrane of the forearm
chpo_term: 前臂骨间膜钙化
id: HP:0030268
hpo_term: Hyperplastic callus formation
chpo_term: 增生性愈伤组织形成
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002512
hpo_term: Brain stem compression
chpo_term: 脑干受压
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0002947
hpo_term: Cervical kyphosis
chpo_term: 颈椎后凸畸形
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005294
hpo_term: Arterial dissection
chpo_term: 动脉夹层
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010953
hpo_term: Noncommunicating hydrocephalus
chpo_term: 非交通性脑积水
id: HP:0012366
hpo_term: Basilar invagination
chpo_term: 颅底凹陷