Specific granule deficiency 1

Definition

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.

Also known as CEBPE specific granule deficiency, specific granule deficiency 1, specific granule deficiency caused by mutation in CEBPE — per MONDO

Also identified as

• OMIM 245480 per MONDO
• UMLS C4551556 per MONDO