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ENDiastrophic Dysplasia (DTD)
Alias:
Diastrophic Dwarfism
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Dtd
Dd
Diastrophic Dwarfism, Slc26a2-Related Diastrophic Dysplasia
Diastrophic Dysplasia Variant
Dysplasia, Diastrophic
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Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to atelosteogenesis, type ii and pseudodiastrophic dysplasia. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone and spinal cord, and related phenotypes are macrocephaly and scoliosis
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MALACARDS
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