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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. 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 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 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 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 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 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 Pantothenate kinase-associated neurodegeneration Description Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This 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