Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

apparent mineralocorticoid excess

Synonyms

cortisol 11-beta-ketoreductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 2

Ulick syndrome

APE

Definitions

An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.

ID

http://purl.obolibrary.org/obo/DOID_0090121

database_cross_reference

MESH:D043204

UMLS_CUI:C2936861

MESH:C537422

ICD10CM:E26.1

UMLS_CUI:C0342488

ORDO:320

OMIM:218030

definition

An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.

has_exact_synonym

cortisol 11-beta-ketoreductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 2

Ulick syndrome

APE

has_obo_namespace

disease_ontology

id

DOID:0090121

label

apparent mineralocorticoid excess

notation

DOID:0090121

prefLabel

apparent mineralocorticoid excess

treeView

http://purl.obolibrary.org/obo/DOID_3947

subClassOf

http://purl.obolibrary.org/obo/DOID_3947

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http://purl.bioontology.org/ontology/MESH/C537422 MESH LOOM
http://purl.obolibrary.org/obo/DOID_0090121 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0090121 NIFSTD SAME_URI
http://purl.bioontology.org/ontology/SNOMEDCT/703256004 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8740 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009025 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009025 MONDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080229 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/218030 OMIM LOOM
http://www.orpha.net/ORDO/Orphanet_320 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_320 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_320 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_320 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_320 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_320 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_320 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_320 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_320 EFO LOOM
http://identifiers.org/omim/218030 RETO LOOM
http://identifiers.org/omim/218030 GEXO LOOM
http://identifiers.org/omim/218030 REXO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537422 RH-MESH LOOM