Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly (SRTD3)

Alias:

Asphyxiating Thoracic Dystrophy 3

Saldino-Noonan Syndrome

Verma-Naumoff Syndrome

Srps2b

Srtd3

Srps1

Srps3

Atd3

Polydactyly with Neonatal Chondrodystrophy, Type Iii

Polydactyly with Neonatal Chondrodystrophy, Type I

Short Rib-Polydactyly Syndrome, Type Iib

Short Rib-Polydactyly Syndrome, Type I

Majewski Syndrome

Dysplasia, Short-Rib Thoracic, Type 3, with/without Polydactyly

Polydactyly with Neonatal Chondrodystrophy Type Iii

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Polydactyly with Neonatal Chondrodystrophy Type I

Short Rib-Polydactyly Syndrome, Type Iii

Short Rib-Polydactyly Syndrome Type Iib

Short Rib-Polydactyly Syndrome Type Iii

Type I Short Rib Polydactyly Syndrome

Jeune Asphyxiating Thoracic Dystrophy

Short Rib-Polydactyly Syndrome Type I

Jeune Syndrome 3

Srps Type Iib

Srps Type Iii

Jatd

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 3, is related to orofaciodigital syndrome iv and short-rib thoracic dysplasia 6 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include pancreas and heart, and related phenotypes are agenesis of corpus callosum and cleft palate

Related ID：

MALACARDS：SHR072

OMIM：613091

MESH：D012779