GenTIGSA Gene Database on Rare Genetic Disorders
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Jeune Thoracic Dystrophy  
Disease Aliases (21)

Atd

Atd1

Asphyxiating thoracic chondrodystrophy

Asphyxiating thoracic dysplasia

Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy (atd)

Asphyxiating thoracic dystrophy 1

Asphyxiating thoracic dystrophy of the newborn

Chondroectodermal dysplasia-like syndrome

Infantile thoracic dystrophy

Jatd

Jeune thoracic dysplasia

Jeune thoracic dystrophy

Jeune asphyxiating thoracic dystrophy

Jeune syndrome

Jeune's syndrome

Short-rib thoracic dysplasia

Thoracic asphyxiant dystrophy

Thoracic pelvic phalangeal dystrophy

Thoracic-pelvic-phalangeal dystrophy

Short-rib thoracic dysplasia with or without polydactyly

Associated Genes (10)
 

NCBI-RefSeq:  IFT172   (Intraflagellar transport 172)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  WDR19   (WD repeat domain 19)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DYNC2I1   (Dynein 2 intermediate chain 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DYNC2LI1   (Dynein cytoplasmic 2 light intermediate chain 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TTC21B   (Tetratricopeptide repeat domain 21B)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CEP120   (Centrosomal protein 120)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DYNC2I2   (Dynein 2 intermediate chain 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFT140   (Intraflagellar transport 140)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFT80   (Intraflagellar transport 80)

External Links:  gnomAD browser   Ensembl   GeneCards

 

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

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Jeune thoracic dystrophy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations