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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hypoaldosteronism
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Accession:DOID:9005658 term browser browse the term
Definition:A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS.
Synonyms:exact_synonym: Hyporeninemic Hypoaldosteronism;   Type IV Renal Tubular Acidosis
 primary_id: MESH:D006994;   RDO:0003710


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Hypoaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) RGD PMID:1594605 RGD:1600824 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238478 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Rhcg Rh family, C glycoprotein treatment IEP RGD PMID:21415155 RGD:9850160 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876 		JBrowse link
corticosterone methyloxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: Early-onset familial hypoaldosteronism | ClinVar Annotator: match by term: Familial hypoaldosteronism | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY		 CTD
OMIM
ClinVar		 PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 More... NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 susceptibility ISO ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder ClinVar
OMIM		 PMID:1594605 PMID:2044581 PMID:8530633 PMID:8954040 PMID:9360501 More... NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        adrenal gland disease 293
          Adrenal Insufficiency 192
            Hypoaldosteronism 3
              CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1
              Hyperreninemic Hypoaldosteronism, Familial, 2 0
              corticosterone methyloxidase deficiency 1 1
paths to the root