Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly (SRTD6)

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly(来自ICD-11)

别称:

Majewski Syndrome

Srps2a

Srtd6

Polydactyly with Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Dysplasia, Thoracic, Short-Rib, Type 6 with/without Polydactyly

Polydactyly with Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Short Rib-Polydactyly Syndrome, Type Ii

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps, Type Ii

Srps Type Ii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to orofaciodigital syndrome iv and short rib-polydactyly syndrome, majewski type. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include pancreas and liver, and related phenotypes are brachycephaly and hepatic fibrosis

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