Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	APPARENT MINERALOCORTICOID EXCESS
Synonyms	CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/218030
altLabel	CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY AME AME1
cui	C0342488
Gene Locus	16q22
Gene Symbol	AME HSD11K HSD11B2
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	207765
notation	218030
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	APPARENT MINERALOCORTICOID EXCESS
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]
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/X40Mu	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10080229	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237770005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010979	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D043204	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/237770005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10080229	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D043204	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10080229	MEDDRA	CUI
http://purl.obolibrary.org/obo/MONDO_0009025	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009025	MONDO	LOOM
http://identifiers.org/omim/218030	REXO	LOOM
http://identifiers.org/omim/218030	GEXO	LOOM
http://identifiers.org/omim/218030	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537422	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8740	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_320	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009025	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009025	KTAO	LOOM
http://purl.obolibrary.org/obo/OMIM_218030	CCO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080229	MEDDRA	LOOM