| 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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| D010386 |
Pelvic Neoplasms |
Tumors or cancer of the pelvic region. |
Cancer of Pelvis,Pelvic Cancer,Cancer of the Pelvis,Neoplasms of Pelvis,Pelvis Cancer,Pelvis Neoplasms,Cancer, Pelvic,Cancer, Pelvis,Cancers, Pelvic,Cancers, Pelvis,Neoplasm, Pelvic,Neoplasm, Pelvis,Neoplasms, Pelvic,Neoplasms, Pelvis,Pelvic Cancers,Pelvic Neoplasm,Pelvis Cancers,Pelvis Neoplasm |
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| D002987 |
Clitoris |
An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora. |
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| D005260 |
Female |
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Females |
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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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| D014846 |
Vulvar Neoplasms |
Tumors or cancer of the VULVA. |
Cancer of Vulva,Vulvar Cancer,Cancer of the Vulva,Neoplasms, Vulvar,Vulva Cancer,Vulva Neoplasms,Cancer, Vulva,Cancer, Vulvar,Cancers, Vulva,Cancers, Vulvar,Neoplasm, Vulva,Neoplasm, Vulvar,Neoplasms, Vulva,Vulva Cancers,Vulva Neoplasm,Vulvar Cancers,Vulvar Neoplasm |
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