| 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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| D009915 |
Orbit |
Bony cavity that holds the eyeball and its associated tissues and appendages. |
Eye Socket,Eye Sockets,Orbits,Socket, Eye,Sockets, Eye |
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| D009918 |
Orbital Neoplasms |
Neoplasms of the bony orbit and contents except the eyeball. |
Neoplasm, Orbital,Neoplasms, Orbital,Orbital Neoplasm |
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| D005147 |
Facial Bones |
The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113) |
Bone, Facial,Bones, Facial,Facial Bone |
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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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| D000009 |
Abdominal Muscles |
Muscles forming the ABDOMINAL WALL including RECTUS ABDOMINIS; ABDOMINAL OBLIQUE MUSCLES, transversus abdominis, pyramidalis muscles and quadratus abdominis. |
Cremaster Muscle,Pyramidalis Muscle,Quadratus Abdominis,Transverse Abdominal,Transversus Abdominis,Abdominal Muscle,Abdominal, Transverse,Abdominals, Transverse,Abdomini, Quadratus,Abdominis, Quadratus,Cremaster Muscles,Muscle, Abdominal,Muscle, Cremaster,Muscle, Pyramidalis,Muscles, Abdominal,Muscles, Cremaster,Muscles, Pyramidalis,Pyramidalis Muscles,Quadratus Abdomini,Transverse Abdominals |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D013518 |
Surgery, Plastic |
The branch of surgery concerned with restoration, reconstruction, or improvement of defective, damaged, or missing structures. |
Cosmetic Surgery,Esthetic Surgery,Plastic Surgery,Surgery, Cosmetic,Surgery, Esthetic,Reconstructive Surgery,Surgery, Reconstructive |
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| D013524 |
Surgical Flaps |
Tongues of skin and subcutaneous tissue, sometimes including muscle, cut away from the underlying parts but often still attached at one end. They retain their own microvasculature which is also transferred to the new site. They are often used in plastic surgery for filling a defect in a neighboring region. |
Island Flap,Island Flaps,Flap, Surgical,Flaps, Surgical,Pedicled Flap,Surgical Flap,Flap, Island,Flap, Pedicled,Flaps, Island,Flaps, Pedicled,Pedicled Flaps |
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