GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Short-rib Thoracic Dysplasia 6 With Or Without Polydactyly  
Disease Aliases (8)

Majewski syndrome

Polydactyly with neonatal chondrodystrophy type 2

Srps type 2

Short rib-polydactyly syndrome majewski type

Short rib-polydactyly syndrome type 2

Short rib-polydactyly syndrome type ii

Short rib-polydactyly syndrome, majewski type

Short-rib thoracic dysplasia 6 with or without polydactyly

Associated Genes (3)
 

NCBI-RefSeq:  DYNC2H1   (Dynein cytoplasmic 2 heavy chain 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NEK1   (NIMA related kinase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TRAF3IP1   (TRAF3 interacting protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Short-rib thoracic dysplasia 6 with or without polydactyly OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations