Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/218030 http://purl.bioontology.org/ontology/OMIM/218030
Preferred Name	APPARENT MINERALOCORTICOID EXCESS
Synonyms	CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY AME AME1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY AME AME1
prefLabel	APPARENT MINERALOCORTICOID EXCESS
Gene Symbol	AME HSD11K HSD11B2
Scope Statement	Onset usually in infancy or childhood [MISCELLANEOUS] Caused by mutation in the 11-beta-hydroxysteroid dehydrogenase, type II gene (HSD11B2, 614232.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Favorable response to spironolactone [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU013727 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU031852 http://purl.bioontology.org/ontology/OMIM/MTHU031853 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU037106 http://purl.bioontology.org/ontology/OMIM/MTHU031851 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU037331 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000160 See more See less
tui	T047
Gene Locus	16q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	218030
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0342488
Moved from	207765
OMIM Entry Type	3
OMIM MimType Value	pound

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