Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Apparent mineralocorticoid excess

Synonyms

Ulick syndrome

Definitions

A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

ID

http://www.orpha.net/ORDO/Orphanet_320

alternative_term

Ulick syndrome

11-beta-hydroxysteroid dehydrogenase deficiency type 2

definition

A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

MeSH:D043204

UMLS:C0342488

ICD-10:E26.8

ICD-11:5A76.Y

OMIM:218030

MedDRA:10080229

label

Apparent mineralocorticoid excess

notation

ORPHA:320

part_of

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_156629

http://www.orpha.net/ORDO/Orphanet_101954

http://www.orpha.net/ORDO/Orphanet_183637

prefixIRI

ORDO:Orphanet_320

prefLabel

Apparent mineralocorticoid excess

present_in

Europe AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_156629

http://www.orpha.net/ORDO/Orphanet_101954

http://www.orpha.net/ORDO/Orphanet_183637

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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