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• NCIT_C3273 IAO_0000115 "The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17." @default.
• NCIT_C3273 NCIT_A13 NCIT_C17424 @default.
• NCIT_C3273 NCIT_A32 NCIT_C176985 @default.
• NCIT_C3273 NCIT_A32 NCIT_C177621 @default.
• NCIT_C3273 NCIT_NHC0 "C3273" @default.
• NCIT_C3273 NCIT_P106 "Disease or Syndrome" @default.
• NCIT_C3273 NCIT_P107 "Neurofibromatosis Type 1" @default.
• NCIT_C3273 NCIT_P108 "Neurofibromatosis Type 1" @default.
• NCIT_C3273 NCIT_P207 "C0027831" @default.
• NCIT_C3273 NCIT_P322 "CCPS" @default.
• NCIT_C3273 NCIT_P322 "CTRP" @default.
• NCIT_C3273 NCIT_P322 "Cellosaurus" @default.
• NCIT_C3273 NCIT_P322 "GDC" @default.
• NCIT_C3273 NCIT_P322 "NICHD" @default.
• NCIT_C3273 NCIT_P322 "PCDC" @default.
• NCIT_C3273 NCIT_P325 "A rare genetic condition that causes brown spots and tumors on the skin, freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental changes in the nervous system, muscles, bone, and skin." @default.
• NCIT_C3273 NCIT_P325 "An autosomal dominant form of neurofibromatosis caused by mutation(s) in the NF1 gene, encoding neurofibromin. The clinical features of this condition may include smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas), optic nerve gliomas, precocious puberty, and growth hormone excess." @default.
• NCIT_C3273 NCIT_P366 "Neurofibromatosis_Type_1" @default.
• NCIT_C3273 NCIT_P375 "9540/1" @default.
• NCIT_C3273 NCIT_P375 "Recklinghausen disease" @default.
• NCIT_C3273 NCIT_P375 "Von Recklinghausen disease" @default.
• NCIT_C3273 NCIT_R106 NCIT_C118388 @default.
• NCIT_C3273 NCIT_R106 NCIT_C178119 @default.
• NCIT_C3273 NCIT_R106 NCIT_C36327 @default.
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• NCIT_C3273 NCIT_R106 NCIT_C97926 @default.
• NCIT_C3273 NCIT_R106 NCIT_C97927 @default.
• NCIT_C3273 NCIT_R108 NCIT_C100104 @default.
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• NCIT_C3273 NCIT_R108 NCIT_C5036 @default.
• NCIT_C3273 NCIT_R108 NCIT_C54062 @default.
• NCIT_C3273 NCIT_R108 NCIT_C7057 @default.
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• NCIT_C3273 NCIT_R116 NCIT_C35562 @default.
• NCIT_C3273 NCIT_R116 NCIT_C35813 @default.

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