Disease (OMIM:250410):
Retinitis pigmentosa with or without skeletal anomalies
RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0033379
hpo_term: Bilateral superior vena cava
chpo_term: 双侧上腔静脉
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:6000460
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0025159
hpo_term: Hypoautofluorescent retinal lesion
chpo_term: 视网膜自发弱荧光病变
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌