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1 Dupuytren contracture Description Dupuytren contracture is characterized by a deformity of the hand in which the joints of extendedextended flexedflexed supports the bodys muscles joints organs. 1RARA generetinoic acid receptor alphaNormal FunctionThe RARA gene provides instructions for making a transcription factor called the retinoic acid receptor alpha RARa A transcription factor is a prot 1PIGA genephosphatidylinositol glycan anchor biosynthesis class ANormal FunctionThe PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A This protein takes p 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 Psoriatic arthritis Description arthritisarthritis in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated ski 1 Chronic myeloid leukemia Description Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone erythrocyteserythrocytes leukocytesleukocytes( thrombocytes) that are involv 1 Age-related macular degeneration Description Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities i 1 Isolated Duane retraction syndrome Description Isolated Duane retraction syndrome is a disorder of eye movement. This condition toward the eartoward the ear toward the nosetoward the nose retractsr 1 Dyskeratosis congenita Description Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and to 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 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 Sandhoff disease Description Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells ( central nervous systemcentral nervous system classified into three major types ba 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 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