Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

apparent mineralocorticoid excess
Synonyms

AME 1

AME

Ame1

apparent mineralocorticoid EXCESS

cortisol 11-Beta-ketoreductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 2

cortisol 11-beta-ketoreductase deficiency

apparent mineralocorticoid excess

11 Beta-hydroxysteroid dehydrogenase type 2 deficiency

ape

Ulick syndrome
Definitions

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
ID

http://purl.obolibrary.org/obo/MONDO_0009025
closeMatch

http://linkedlifedata.com/resource/umls/id/C1415737
database_cross_reference

OMIM:218030

Orphanet:320

MESH:C537422

ICD10:E26.1

GARD:0000433

NCIT:C131083

UMLS:CN203981

SCTID:703256004

UMLS:C2936861

UMLS:C3887949

DOID:0090121
disease has basis in dysfunction of

http://identifiers.org/hgnc/5209
exactMatch

http://identifiers.org/mesh/C537422

http://identifiers.org/omim/218030

http://identifiers.org/mesh/D043204

http://linkedlifedata.com/resource/umls/id/C2936861

http://linkedlifedata.com/resource/umls/id/C3887949

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

http://linkedlifedata.com/resource/umls/id/C0342488

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

http://purl.obolibrary.org/obo/NCIT_C131083

http://identifiers.org/snomedct/703256004

http://linkedlifedata.com/resource/umls/id/CN203981
has exact synonym

11-beta-hydroxysteroid dehydrogenase deficiency type 2

cortisol 11-beta-ketoreductase deficiency

apparent mineralocorticoid excess

11 Beta-hydroxysteroid dehydrogenase type 2 deficiency

ape

Ulick syndrome
has related synonym

AME 1

AME

Ame1

apparent mineralocorticoid EXCESS

cortisol 11-Beta-ketoreductase deficiency
id

MONDO:0009025
imported from

http://purl.obolibrary.org/obo/mondo.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare
label

apparent mineralocorticoid excess
notation

MONDO:0009025
prefLabel

apparent mineralocorticoid excess
see also

https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess
textual definition

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0006640
subClassOf

http://purl.obolibrary.org/obo/MONDO_0005495

http://purl.obolibrary.org/obo/MONDO_0015512
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