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1 Ellisvan Creveld syndrome Description Ellisvan Creveld syndrome is an inherited disorder of bone growth that results in very dwarfismdwarfism lower legs and a narrow chest with short ribs Ellis. 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 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 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 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 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 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 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 ADAMTS2 gene ADAM metallopeptidase with thrombospondin type 1 motif 2 Normal Function The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molec 1 X-linked severe combined immunodeficiency Description SCIDSCID immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent infections be 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 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 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