Glucocorticoid deficiency 1

Definition

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.

Also known as familial glucocorticoid deficiency caused by mutation in MC2R, glucocorticoid deficiency 1, glucocorticoid deficiency, due to ACTH unresponsiveness, MC2R familial glucocorticoid deficiency — per MONDO

Also identified as

• DOID 0080621 per MONDO
• OMIM 202200 per MONDO
• UMLS C4049650 per MONDO