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1 VACTERL association Description VACTERL association is a disorder that affects many body systems VACTERL stands for vertebral defects anal atresia cardiac defects tracheoesophageal fistula re. 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 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 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 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 Autosomal dominant partial epilepsy with auditory features Description ADPEAFADPEAF form of epilepsy that runs in families. This disorder causes seizures usually auditoryauditory ringing. Some peop 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 Parkinson disease Description Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra th 1 Pantothenate kinase-associated neurodegeneration Description Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This 1 Familial hyperaldosteronism Description Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too