Neurofibroma
ORPHA:252183АуруДерек жоқЕресек
Фенотипы (HPO)28
Облигатный (100%)1
HP:0001067Neurofibromas
Частый (30–79%)4
HP:0007470Periarticular subcutaneous nodules
HP:0009732Plexiform neurofibroma
HP:0012645Enlarged peripheral nerve
HP:0100698Subcutaneous neurofibromas
Периодический (5–29%)6
HP:0001291Abnormal cranial nerve morphology
HP:0003406Peripheral nerve compression
HP:0003416Spinal canal stenosis
HP:0006751Paraspinal neurofibromas
HP:0006851Symmetric spinal nerve root neurofibromas
HP:0009735Spinal neurofibromas
Очень редкий (1–4%)15
HP:0000256Macrocephaly
HP:0000403Recurrent otitis media
HP:0002584Intestinal bleeding
HP:0002751Kyphoscoliosis
HP:0005220Multiple intestinal neurofibromatosis
HP:0007524Atypical neurofibromatosis
HP:0007576Palmar neurofibromas
HP:0009593Peripheral schwannoma
HP:0011801Enlargement of parotid gland
HP:0012289Facial neoplasm
HP:0012440Abnormal biliary tract morphology
HP:0100010Spinal meningioma
HP:0100013Neoplasm of the breast
HP:0100527Neoplasia of the pleura
HP:0100551Neoplasm of the trachea
Исключён (0%)2
HP:0000995Melanocytic nevus
HP:0010609Skin tags
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)