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Human Disease

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
Ontology
Human Disease   ( DOID:0080621 )
Relationships
is a type of
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Genes Involved
Zebrafish Models