Shwachman-Diamond syndrome 2

Definition

Any Shwachman-Diamond syndrome in which the cause of the disease is a variation on the EFL1 gene, characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia.

Also known as EFL1-related Shwachman-Diamond syndrome, Shwachman-Diamond syndrome 2 — per MONDO

Also identified as

• OMIM 617941 per MONDO
• UMLS C4693704 per MONDO