Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly (SRTD17)

Alias:

Srtd17

Ciliopathies with Major Skeletal Involvement

Short Rib Dysplasia

Srp

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly, also known as srtd17, is related to immune-mediated necrotizing myopathy and thoracolaryngopelvic dysplasia. An important gene associated with Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly is DYNLT2B (Dynein Light Chain Tctex-Type 2B). Affiliated tissues include pancreas and bone, and related phenotypes are short ribs and horizontal ribs

Related ID：

MALACARDS：SHR104

OMIM：617405

MESH：D012779