Disease (ORPHA:93357):
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
SPONASTRIME dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type

Associated phenotypes (HPO):
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:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0031367
hpo_term: Metaphyseal striations
chpo_term: 干骺端条纹
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0003895
hpo_term: Flattened humeral epiphyses
chpo_term: 肱骨骨骺扁平
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0004603
hpo_term: Hyperconvex vertebral body endplates
chpo_term: 椎体终板过度突出
id: HP:0004646
hpo_term: Hypoplasia of the nasal bone
chpo_term: 鼻骨发育不全
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0005446
hpo_term: Obtuse angle of mandible
chpo_term: 下颌钝角
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0006336
hpo_term: Short dental root
chpo_term: 短牙根
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0007707
hpo_term: Congenital aphakia
chpo_term: 先天性无晶状体
id: HP:0010234
hpo_term: Ivory epiphyses of the phalanges of the hand
chpo_term: 指骨象牙色骨骺
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0010740
hpo_term: Osteopathia striata
chpo_term: 纹状骨病
id: HP:0010941
hpo_term: Aplasia of the nasal bone
chpo_term: 鼻骨未发育
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0025492
hpo_term: Microcoria
chpo_term: 小瞳孔
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0030834
hpo_term: Shoulder pain
chpo_term: 肩痛
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0040221
hpo_term: Hypoplasia of the dental root
chpo_term: 牙根发育不全
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称