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glucocorticoid deficiency 1
Summary
- 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.
- Super Class
- autosomal recessive disease familial glucocorticoid deficiency
External Links
- Disease Ontology
- DOID:0080621
- Mondo Disease Ontology
- OMIM
