Dyskeratosis congenita, autosomal recessive 5

Definition

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.

Also known as DKCB5, dyskeratosis congenita, autosomal recessive 5, dyskeratosis congenita, autosomal recessive type 5 — per MONDO

Also identified as

• DOID 0070022 per MONDO
• NCIT C176928 per MONDO
• OMIM 615190 per MONDO
• UMLS C3554656 per MONDO

Affected Organs