Disease (ORPHA:363700):
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
id: HP:0011407
hpo_term: Proportionate tall stature
chpo_term: 成比例高身材
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0100698
hpo_term: Subcutaneous neurofibromas
chpo_term: 皮下的神经纤维瘤
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006479
hpo_term: Abnormal dental pulp morphology
chpo_term: 牙髓形态异常
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0009735
hpo_term: Spinal neurofibromas
chpo_term: 脊髓神经纤维瘤
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100697
hpo_term: Neurofibrosarcoma
chpo_term: 神经纤维肉瘤
id: HP:0430022
hpo_term: Abnormality of the sphenoid sinus
chpo_term: 蝶窦异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0020035
hpo_term: Lower limb dysmetria
chpo_term: 下肢距辨不良症
id: HP:0030426
hpo_term: Ossifying fibroma
chpo_term: 骨化性纤维瘤
id: HP:0032252
hpo_term: Granuloma
chpo_term: 肉芽肿
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤