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ENImmunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA)
Alias:
Isdna
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Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities, also known as isdna, is related to osteochondrodysplasia and cystic kidney disease. An important gene associated with Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities is EXTL3 (Exostosin Like Glycosyltransferase 3). Affiliated tissues include t cells and liver, and related phenotypes are anal atresia and erythroderma
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MALACARDS
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