Disease (OMIM:210720):
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Microcephalic osteodysplastic primordial dwarfism, type II

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0007402
hpo_term: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
chpo_term: 不沿Blaschko线分布的色素减退和色素沉着区域
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0100263
hpo_term: Distal symphalangism
chpo_term: 远端指关节融合
id: HP:0006461
hpo_term: Proximal femoral epiphysiolysis
chpo_term: 股骨近端骨骺生理溶解
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006587
hpo_term: Straight clavicles
chpo_term: 锁骨平直
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0011834
hpo_term: Moyamoya phenomenon
chpo_term: 烟雾现象
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0002690
hpo_term: Large sella turcica
chpo_term: 大蝶鞍
id: HP:0009193
hpo_term: Pseudoepiphyses of the metacarpals
chpo_term: 掌骨假骨骺
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0010583
hpo_term: Ivory epiphyses
chpo_term: 象牙化骨骺
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0006645
hpo_term: Thin clavicles
chpo_term: 锁骨细小