OnlineIMD
ACTH receptor deficiency
Synonym(s)
Melanocortin-2 receptor deficiency
,
hereditary glucocorticoid deficiency type 1
Type
Disease
External link(s)
IEMbase
Gene
MC2R
/ Melanocortin 2 Receptor
18p11.21
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Melanocortin-2 receptor
Disease group(s)
24.2 Disorders of steroid metabolism