glucocorticoid deficiency 1

Term ID

DOID:0080621

Synonyms

Definition

A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. https://www.ncbi.nlm.nih.gov/pubmed/19500760

References

• OMIM:202200

Ontology

Human Disease   ( DOID:0080621 )