Disease (OMIM:162200):
Neurofibromatosis, type 1
NEUROFIBROMATOSIS, TYPE I

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6001124
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0007429
hpo_term: Few cafe-au-lait spots
chpo_term: 散发型牛奶咖啡斑
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0010795
hpo_term: Cerebellar glioma
chpo_term: 小脑胶质瘤
id: HP:0100697
hpo_term: Neurofibrosarcoma
chpo_term: 神经纤维肉瘤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0009733
hpo_term: Glioma
chpo_term: 神经胶质瘤
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0002865
hpo_term: Medullary thyroid carcinoma
chpo_term: 甲状腺髓样癌
id: HP:0009735
hpo_term: Spinal neurofibromas
chpo_term: 脊髓神经纤维瘤
id: HP:0006743
hpo_term: Embryonal rhabdomyosarcoma
chpo_term: 胚胎横纹肌肉瘤
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0009736
hpo_term: Tibial pseudarthrosis
chpo_term: 胫骨假关节
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0033680
hpo_term: Pilocytic astrocytoma
chpo_term: 毛细胞型星型细胞瘤
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼