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ONTOLOGY REPORT - ANNOTATIONS


Term:apparent mineralocorticoid excess syndrome
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Accession:DOID:4367 term browser browse the term
Definition:A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.
Synonyms:exact_synonym: 11-beta-hydroxysteroid dehydrogenase deficiency type 2;   AME;   AME1;   Cortisol 11-beta-ketoreductase deficiency;   Ulick syndrome;   apparent mineralocorticoid excess;   syndrome of apparent mineralocorticoid excess
 narrow_synonym: apparent mineralocorticoid excess, mild
 primary_id: MESH:D043204
 alt_id: DOID:0090121;   MESH:C537422;   OMIM:218030
 xref: GARD:433;   NCI:C123231;   ORDO:320
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apparent mineralocorticoid excess syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:7240710
RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173

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  disease 15602
    syndrome 5231
      apparent mineralocorticoid excess syndrome 2
Path 2
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  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lipid metabolism disorder 740
              steroid inherited metabolic disorder 46
                apparent mineralocorticoid excess syndrome 2
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