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1 EGFR gene epidermal growth factor receptor Normal Function The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor which spans the cell memb. 1MelanomaDescriptionMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes This cancer typically occurs in areas that are only occasionally sun-exposed tumors are 1 ANTXR2 gene ANTXR cell adhesion molecule 2 Normal Function The ANTXR2 gene provides instructions for making a protein that is found at the surface of many types of cells. The ANTXR2 protein is be 1 Atopic dermatitis Description also known as atopic eczemaalso known as atopic eczema dermatitisdermatitis often disappears before adolescence. However, in some affected individuals the condition co 1 Dermatofibrosarcoma protuberans Description Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, 1 Alpers-Huttenlocher syndrome Description Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG -related disorders. The conditions in this group feature a 1 Dupuytren contracture Description Dupuytren contracture is characterized by a deformity of the hand in which the joints of extendedextended flexedflexed supports the body's muscles, joints, organs, 1 Terminal osseous dysplasia Description Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions 1 Early-onset isolated dystonia Description Early-onset isolated dystonia is one of many forms of dystonia, which is a group of muscle contractionsmuscle contractions tremorstremors other uncontrolle 1 Ellis-van Creveld syndrome Description Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very dwarfismdwarfism lower legs and a narrow chest with short ribs. Ellis- 1 Childhood absence epilepsy Description epilepsyepilepsy . This condition begins in childhood, usually between ages 3 and 8. Affected children also known as petit mal seizuresalso known as petit mal 1 Stickler syndrome Description Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These sign 1 Hypertension Description Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it 1 Nail-patella syndrome Description Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between aff 1 Y chromosome infertility Description Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected