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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Cul3 cullin 3 JBrowse link 9 86,044,485 86,129,066 RGD:8554872
G Klhl3 kelch-like family member 3 JBrowse link 17 6,924,423 7,029,374 RGD:8554872
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 JBrowse link 19 34,408,275 34,761,003 RGD:1600930
RGD:8554872
RGD:7240710
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          renal tubular transport disease 87
            pseudohypoaldosteronism 13
              autosomal dominant pseudohypoaldosteronism type 1 4
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                autosomal dominant pseudohypoaldosteronism type 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.