Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly (SRTD7)

Alias:

Srtd7

Srps5

Short-Rib Thoracic Dysplasia 7/20 with Polydactyly, Digenic

Short Rib-Polydactyly Syndrome Type V

Dysplasia, Thoracic, Short-Rib, Type 7 with/without Polydactyly

Short-Rib Thoracic Dysplasia 7 Without Polydactyly

Short Rib-Polydactyly Syndrome, Type V

Short Rib-Polydactyly Syndrome Type 5

Srps Type V

Srtd7/20

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly, also known as srtd7, is related to short rib-polydactyly syndrome and short rib-polydactyly syndrome, saldino-noonan type. An important gene associated with Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly is WDR35 (WD Repeat Domain 35), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include pancreas and bone, and related phenotypes are high palate and bowing of the long bones

Related ID：

MALACARDS：SHR063

OMIM：614091

MESH：D012779