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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


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: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Dclk2 doublecortin-like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 2:172,202,733...172,338,411
Ensembl chr 2:172,208,706...172,338,250 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 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
ISS		 OMIM:177735
ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant		 OMIM
MouseDO
ClinVar
RGD		 PMID:9662404 PMID:11134129 PMID:11344206 PMID:12483305 PMID:12679457 More... RGD:1600930 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 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 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          renal tubular transport disease 134
            pseudohypoaldosteronism 14
              autosomal dominant pseudohypoaldosteronism type 1 5
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                autosomal dominant pseudohypoaldosteronism type 1 5
paths to the root