/asphyxiating thoracic dystrophy 2

asphyxiating thoracic dystrophy 2

Rare Disease

MONDO:0012644

Also Known As

ATD2IFT80 Jeune syndromeJeune syndrome caused by mutation in IFT80SRTD2asphyxiating thoracic dystrophy 2asphyxiating thoracic dystrophy type 2short-rib thoracic dysplasia 2 with or without polydactyly

Definition

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

IFT80 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:611263 ↗

GARD

GARD:15511 ↗

Related Diseases

asphyxiating thoracic dystrophy 1

MONDO:0008831

Rare

Ellis-van Creveld syndrome

MONDO:0009162

Rare

short-rib thoracic dysplasia 6 with or without polydactyly

MONDO:0009894

Rare

short-rib thoracic dysplasia 9 with or without polydactyly

MONDO:0009964

Rare

Beemer-Langer syndrome

MONDO:0010024

Rare

asphyxiating thoracic dystrophy 3

MONDO:0013127

Rare

← Back to All Diseases