Spondylocostal Dysostosis 3, Autosomal Recessive (SCDO3)

Alias:

Scdo3

Spondylocostal Dysostosis, Autosomal Recessive 3

Spondylocostal Dysostosis 3

Dysostosis, Spondylocostal, Autosomal Recessive, Type 3

Autosomal Recessive Spondylocostal Dysostosis 3

Jarcho-Levin Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondylocostal Dysostosis 3, Autosomal Recessive, also known as scdo3, is related to dysostosis and spondylocostal dysostosis. An important gene associated with Spondylocostal Dysostosis 3, Autosomal Recessive is LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways is Gastrulation. Affiliated tissues include bone, and related phenotypes are scoliosis and short stature

Related ID：

MALACARDS：SPN297

OMIM：609813

MESH：D004413