Dyskeratosis congenita, autosomal recessive 1

Definition

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.

Also known as DKCB1, dyskeratosis congenita, autosomal recessive 1, dyskeratosis congenita, autosomal recessive type 1 — per MONDO

Also identified as

• DOID 0070015 per MONDO
• MESH C565611 per MONDO
• NCIT C176925 per MONDO
• OMIM 224230 per MONDO
• SCTID 707272006 per MONDO
• UMLS C1857144 per MONDO

Affected Organs