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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:autosomal dominant pseudohypoaldosteronism type 1
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Accession:DOID:0060855 term browser browse the term
Definition:A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: PHA1A;   autosomal dominant PHA 1;   pseudohypoaldosteronism, type I, autosomal dominant;   pseudohypoaldosteronism, type I, dominant
 primary_id: OMIM:177735
 alt_id: RDO:9003076
 xref: GARD:9145
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:30311385 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar
OMIM
RGD
PMID:9662404 PMID:11134129 PMID:11344206 PMID:12483305 PMID:12679457 More... RGD:1600930 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          renal tubular transport disease 94
            pseudohypoaldosteronism 14
              autosomal dominant pseudohypoaldosteronism type 1 4
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal dominant disease 4483
                autosomal dominant pseudohypoaldosteronism type 1 4
paths to the root