Disease

Spondylo-megaepiphyseal-metaphyseal Dysplasia

About the Disease
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia, also known as smmd, is related to pyle disease and metaphyseal dysplasia. An important gene associated with Spondylo-Megaepiphyseal-Metaphyseal Dysplasia is NKX3-2 (NK3 Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and short neck

Common Targets
DDRGK1 | DDR2 | TRPV4 | NKX3-2 | EXOC6B | PCYT1A | MMP13 | KIF22 | COL2A1 | CFAP410

疾病靶点研报
Spondylo-megaepiphyseal-metaphyseal Dysplasia

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