Disease (OMIM:601812):
Premature aging syndrome, Penttinen type
PREMATURE AGING SYNDROME, PENTTINEN TYPE

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0007922
hpo_term: Hypermyelinated retinal nerve fibers
chpo_term: 视网膜神经纤维过度髓化
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
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:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0010500
hpo_term: Hyperextensibility of the knee
chpo_term: 膝关节过伸
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010941
hpo_term: Aplasia of the nasal bone
chpo_term: 鼻骨未发育
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0011829
hpo_term: Narrow philtrum
chpo_term: 人中狭窄
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0010539
hpo_term: Thin calvarium
chpo_term: 颅骨薄
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌