Dyskeratosis Congenita, Autosomal Recessive 5

**Semantic type:** Disease or Syndrome

**Definition:** Dyskeratosis congenita caused by mutation(s) in the RTEL1 gene, encoding regulator of telomere elongation helicase 1.

**Synonyms:** - DKCA4 - DKCB5 - Dyskeratosis Congenita, Autosomal Dominant 4