Metadata | |
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ID | DOID:0080621 |
Name | glucocorticoid deficiency 1 |
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 |
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