Disease (ORPHA:636):
Von Recklinghausen disease
Nonmosaic NF1
Neurofibromatosis type 1
Nonmosaic neurofibromatosis type 1

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
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:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005506
hpo_term: Chronic myelogenous leukemia
chpo_term: 慢性粒细胞白血病
id: HP:0007378
hpo_term: Neoplasm of the gastrointestinal tract
chpo_term: 胃肠道新生物
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
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:0010786
hpo_term: Urinary tract neoplasm
chpo_term: 泌尿系肿瘤
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0100013
hpo_term: Neoplasm of the breast
chpo_term: 乳腺肿瘤
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
id: HP:0100723
hpo_term: Gastrointestinal stroma tumor
chpo_term: 胃肠道间质肿瘤
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌