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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.


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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 NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
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 chr17:6,924,423...7,029,374
Ensembl chr17:6,935,860...7,029,240
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
PMID:9662404, PMID:11134129, PMID:11344206, PMID:12483305, PMID:12679457, PMID:12788847, PMID:14715854, PMID:15126534, PMID:16611713, PMID:16757525, PMID:16954160, PMID:19571553, PMID:20030467, PMID:24033266, PMID:25251996, PMID:25741868, PMID:27780983, PMID:28492532, PMID:30763456, PMID:9662404 RGD:1600930 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2232
          renal tubular transport disease 93
            pseudohypoaldosteronism 14
              autosomal dominant pseudohypoaldosteronism type 1 4
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                autosomal dominant pseudohypoaldosteronism type 1 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.