Disease (OMIM:276820):
Ulna and fibula, absence of, with severe limb deficiency
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0009815
hpo_term: Aplasia/hypoplasia of the extremities
chpo_term: 肢体发育不良/发育不全
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0010769
hpo_term: Pilonidal sinus
chpo_term: 藏毛窦
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0003070
hpo_term: Elbow ankylosis
chpo_term: 肘运动受限
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
id: HP:0010173
hpo_term: Aplasia/Hypoplasia of the phalanges of the toes
chpo_term: 趾骨发育不良或发育不全
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0000916
hpo_term: Broad clavicles
chpo_term: 锁骨增宽
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0009104
hpo_term: Aplasia/Hypoplasia of the pubic bone
chpo_term: 耻骨发育不良/发育不全
id: HP:0001964
hpo_term: Aplasia/Hypoplasia of metatarsal bones
chpo_term: 跖骨发育不良/发育不全
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0008363
hpo_term: Aplasia/Hypoplasia of the tarsal bones
chpo_term: 跗骨发育不良/发育不全
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006585
hpo_term: Congenital pseudoarthrosis of the clavicle
chpo_term: 先天性锁骨假关节
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000884
hpo_term: Prominent sternum
chpo_term: 胸骨突出
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0006502
hpo_term: Aplasia/Hypoplasia involving the carpal bones
chpo_term: 腕骨发育不良/发育不全
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0005613
hpo_term: Aplasia/hypoplasia of the femur
chpo_term: 股骨发育不良/发育不全
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:0003252
hpo_term: Anteriorly displaced genitalia
chpo_term: 外生殖器向前移位
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002436
hpo_term: Occipital meningocele
chpo_term: 枕脊膜膨出
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0009767
hpo_term: Aplasia/Hypoplasia of the phalanges of the hand
chpo_term: 指骨发育不良/发育不全
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0008817
hpo_term: Aplastic pubic bones
chpo_term: 耻骨发育不全
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0003982
hpo_term: Aplasia of the ulna
chpo_term: 尺骨缺如
id: HP:0004231
hpo_term: Carpal bone aplasia
chpo_term: 腕骨发育不全
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0400004
hpo_term: Long ear
chpo_term: 长耳
id: HP:0005914
hpo_term: Aplasia/Hypoplasia involving the metacarpal bones
chpo_term: 掌骨发育不全或发育低下
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症