Autosomal recessive dyskeratosis congenita 4

Definition

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.

Also known as dyskeratosis congenita, autosomal recessive 4 — per MONDO

Also identified as

• DOID 0070021 per MONDO
• UMLS C3151444 per MONDO