Disease (ORPHA:2636):
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Microcephalic osteodysplastic primordial dwarfism types I and III
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
MOPD types I and III

Associated phenotypes (HPO):
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
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:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003172
hpo_term: Abnormality of the pubic bone
chpo_term: 耻骨异常
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0005613
hpo_term: Aplasia/hypoplasia of the femur
chpo_term: 股骨发育不良/发育不全
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006660
hpo_term: Aplastic clavicle
chpo_term: 锁骨发育不全
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008818
hpo_term: Large iliac wing
chpo_term: 大髂骨翼
id: HP:0009832
hpo_term: Abnormal distal phalanx morphology of finger
chpo_term: 末节指骨形态异常
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0010443
hpo_term: Bifid femur
chpo_term: 股骨骨裂
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011457
hpo_term: Loss of eyelashes
chpo_term: 睫毛消退
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0100530
hpo_term: Abnormal calcium-phosphate regulating hormone level
chpo_term: 磷酸盐和钙的调节激素异常
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009912
hpo_term: Abnormal tragus morphology
chpo_term: 耳屏形态异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘