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Metadata
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
Xrefs

OMIM:202200

Parent Relationships

is_a familial glucocorticoid deficiency

is_a autosomal recessive disease

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