Spondylocostal Dysostosis 1, Autosomal Recessive (SCDO1)

Alias:

Jarcho-Levin Syndrome

Vertebral Anomalies

Scdo1

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondylocostal Dysostosis 1, Autosomal Recessive, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 3, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 1, Autosomal Recessive is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Gastrulation and Mesodermal commitment pathway. Affiliated tissues include bone and spinal cord, and related phenotypes are short stature and rib fusion

Related ID：

MALACARDS：SPN310

OMIM：277300

MESH：D004413