Dyskeratosis congenita, autosomal dominant 3

Definition

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

Also known as DKCA3, dyskeratosis congenita, autosomal dominant 3, dyskeratosis congenita, autosomal dominant type 3 — per MONDO

Also identified as

• DOID 0070018 per MONDO
• NCIT C176923 per MONDO
• OMIM 613990 per MONDO
• UMLS C3151445 per MONDO

Affected Organs