Term Name: | glucocorticoid deficiency 1 |
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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. |
Ontology: | Human Disease [DOID:0080621] ( DOID:0080621 ) |