Dyskeratosis congenita, autosomal dominant 1

Definition

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.

Also known as DKCA1, dyskeratosis congenita, autosomal dominant 1, dyskeratosis congenita, autosomal dominant type 1, dyskeratosis congenita, Scoggins type — per MONDO

Also identified as

• DOID 0070014 per MONDO
• MESH C565079 per MONDO
• NCIT C176921 per MONDO
• OMIM 127550 per MONDO
• SCTID 707273001 per MONDO
• UMLS C4551974 per MONDO

Affected Organs