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corticosterone methyloxidase type 1 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Uniprot Description Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal.
Mondo Term and Equivalent IDs
MONDO:0008751:  corticosterone methyloxidase type 1 deficiency
DOID:0080626: 
GARD:0005660: 
SCTID:47757001: 
UMLS:CN074214: