| D008297 |
Male |
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Males |
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| 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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| D002340 |
Carotid Artery Diseases |
Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology. |
Carotid Atherosclerosis,Common Carotid Artery Disease,Internal Carotid Artery Disease,Arterial Diseases, Carotid,Arterial Diseases, Common Carotid,Arterial Diseases, External Carotid,Arterial Diseases, Internal Carotid,Atherosclerotic Disease, Carotid,Carotid Artery Disorders,Carotid Atherosclerotic Disease,Common Carotid Artery Diseases,External Carotid Artery Diseases,Internal Carotid Artery Diseases,Arterial Disease, Carotid,Artery Disease, Carotid,Artery Diseases, Carotid,Artery Disorder, Carotid,Artery Disorders, Carotid,Atherosclerotic Diseases, Carotid,Carotid Arterial Disease,Carotid Arterial Diseases,Carotid Artery Disease,Carotid Artery Disorder,Carotid Atheroscleroses,Carotid Atherosclerotic Diseases,Disorders, Carotid Artery |
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| D002343 |
Carotid Artery, Internal |
Branch of the common carotid artery which supplies the anterior part of the brain, the eye and its appendages, the forehead and nose. |
Arteries, Internal Carotid,Artery, Internal Carotid,Carotid Arteries, Internal,Internal Carotid Arteries,Internal Carotid Artery |
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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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| D003251 |
Constriction, Pathologic |
The condition of an anatomical structure's being constricted beyond normal dimensions. |
Stenosis,Stricture,Constriction, Pathological,Pathologic Constriction,Constrictions, Pathologic,Pathologic Constrictions,Pathological Constriction,Stenoses,Strictures |
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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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