| D009456 |
Neurofibromatosis 1 |
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). |
Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease |
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| D009897 |
Optic Chiasm |
The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes. |
Chiasma Opticum,Optic Chiasma,Optic Decussation,Chiasm, Optic,Chiasma Opticums,Chiasma, Optic,Chiasmas, Optic,Chiasms, Optic,Decussation, Optic,Decussations, Optic,Optic Chiasmas,Optic Chiasms,Optic Decussations,Opticum, Chiasma,Opticums, Chiasma |
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| D001766 |
Blindness |
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE. |
Amaurosis,Bilateral Blindness,Blindness, Bilateral,Blindness, Legal,Blindness, Monocular,Blindness, Unilateral,Sudden Visual Loss,Unilateral Blindness,Blindness, Acquired,Blindness, Complete,Blindness, Hysterical,Blindness, Transient,Acquired Blindness,Amauroses,Bilateral Blindnesses,Complete Blindness,Hysterical Blindness,Legal Blindness,Monocular Blindness,Sudden Visual Losses,Transient Blindness,Visual Loss, Sudden |
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| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
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| D002675 |
Child, Preschool |
A child between the ages of 2 and 5. |
Children, Preschool,Preschool Child,Preschool Children |
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| D003390 |
Cranial Nerve Neoplasms |
Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves. |
Cranial Neuroma, Benign,Benign Cranial Nerve Neoplasms,Benign Cranial Nerve Tumors,Cranial Nerve Neoplasms, Benign,Cranial Nerve Neoplasms, Malignant,Cranial Nerve Tumors, Benign,Cranial Nerve Tumors, Malignant,Malignant Cranial Nerve Neoplasms,Malignant Cranial Nerve Tumors,Neoplasms, Cranial Nerve,Neoplasms, Cranial Nerve, Benign,Neoplasms, Cranial Nerve, Malignant,Tumors, Cranial Nerve, Benign,Tumors, Cranial Nerve, Malignant,Benign Cranial Neuroma,Benign Cranial Neuromas,Cranial Nerve Neoplasm,Cranial Neuromas, Benign,Neoplasm, Cranial Nerve,Neuroma, Benign Cranial,Neuromas, Benign Cranial |
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| D005128 |
Eye Diseases |
Diseases affecting the eye. |
Eye Disorders,Eye Disease,Eye Disorder |
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| D005260 |
Female |
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Females |
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| D005910 |
Glioma |
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21) |
Glial Cell Tumors,Malignant Glioma,Mixed Glioma,Glial Cell Tumor,Glioma, Malignant,Glioma, Mixed,Gliomas,Gliomas, Malignant,Gliomas, Mixed,Malignant Gliomas,Mixed Gliomas,Tumor, Glial Cell,Tumors, Glial Cell |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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