Disease (ORPHA:93323):
Isolated congenital longitudinal deficiency of the fibula
Isolated fibular deficiency
Isolated fibular longitudinal meromelia
Isolated fibular hemimelia

Associated phenotypes (HPO):
id: HP:0030772
hpo_term: Proximal femoral focal deficiency
chpo_term: 股骨近端局灶性缺损
id: HP:0031058
hpo_term: Impairment of activities of daily living
chpo_term: 日常生活活动障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0006437
hpo_term: Disproportionate prominence of the femoral medial condyle
chpo_term: 股骨内侧髁不成比例的突出
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0040069
hpo_term: Abnormal lower limb bone morphology
chpo_term: 下肢骨形态异常
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003184
hpo_term: Decreased hip abduction
chpo_term: 髋关节外展减小
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0005085
hpo_term: Limited knee flexion/extension
chpo_term: 膝关节屈伸受限
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006460
hpo_term: Increased laxity of ankles
chpo_term: 脚踝松弛度增加
id: HP:0010219
hpo_term: Structural foot deformity
chpo_term: 足结构性畸形
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0045086
hpo_term: Knee joint hypermobility
chpo_term: 膝关节过度伸展
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003274
hpo_term: Hypoplastic acetabulae
chpo_term: 髋臼发育低下
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0100656
hpo_term: Thoracoabdominal wall defect
chpo_term: 胸腹壁缺损