/dyskeratosis congenita, autosomal dominant 3

dyskeratosis congenita, autosomal dominant 3

Rare Disease

MONDO:0013522

Also Known As

DKCA3dyskeratosis congenita, autosomal dominant 3dyskeratosis congenita, autosomal dominant type 3autosomal dominant dyskeratosis congenita 3

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.

Comprehensive, easy-to-understand information about this condition

Checking for content...

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

autosomal dominant polycystic liver disease

MONDO:0000447

tuberous sclerosis

MONDO:0001734

Treacher-Collins syndrome

MONDO:0002457

hereditary breast ovarian cancer syndrome

MONDO:0003582

autosomal dominant polycystic kidney disease

MONDO:0004691

Lynch syndrome

MONDO:0005835